Supporting Children and Young People with Norrie Disease
Guidance for Schools and
Educational Settings to
Support
Children
and
Young
People
with Norrie
Disease
This
leaflet
aims to
provide general
information about Norrie
Disease (ND), its
management
and
how
to
support
the
education
of
children
and
young
people
in schools and
educational
settings.
You
will
find
this
leaflet
useful if
you work
in a
school
or other
educational
setting with
children
or
young
people
with
ND.
If
you
are
the
parent
or
carer
of a
child
or
young
person
with
ND,
then
you
could
use this guide to
engage
with the school or
educational
setting about
your
child’s
needs.
This
leaflet
was produced
with the help of many
people,
including
children
and
young
people
with
ND,
their
parents,
and
Qualified
Teachers
of the Vision
Impaired
and the
Deaf.
CONTENTS
Introduction
to
Norrie
Disease
(ND)
4
•
What is
ND?
•
Common
features
and
symptoms
•
Causes
•
Management
•
Living with
ND
•
Key people
in schools or
other
educational
settings
General
guidance
for
schools and other
educational
settings
10
•
Attending school with
ND
•
Effective
communication
•
Learning and
teaching
•
Staff
training
•
Mobility
•
Peer interactions
and
extra-
curricular
activities
•
Specialist
equipment
Useful
contacts
and
resources
29
Refe
r
ences
30
Age-specific
guidance
20
•
Pre-school/nursery (ages
3–5)
•
Primary school
(ages
5–11)
•
Secondary
school
(ages
11–16)
•
Sixth-form/college (ages
16–18)
The
Norrie
Disease
Foundation
28
INTRODUCTION TO NORRIE
DISEASE
What causes Norrie
Disease?
Our bodies
are
made up of trillions of cells.
These
cells contain an
‘instruction
manual’ made up of
approximately
20,000
genes,
which tell the body
how
to
develop
and
function.
ND is
caused by
a misprint (mutation) in one of these
genes,
called
the ND
pseudoglioma
(
NDP
) gene. This
gene
contains ‘instructions’ for making a
protein
called
Norrin, which is
important
for the
development
and function of
parts
of the
eye
and inner
ear.
A person born with ND does not
have
a normal
functioning
NDP
gene,
and
therefore
does not
make
Norrin that
works
correctly.
Norrin is
involved
in
processes
that
are
believed
to be critical for the
development
of cells in the
retina
(the thin
layer
at the back of the
eye
that
senses light and
colour)
and the establishment of a
blood
supply
to the
retina
and the inner
ear.
Mutation of the Norrin
protein results
in blindness
from
birth
in
ND,
as
well
as hearing
loss
in some
people.
What is Norrie Disease
(ND)?
ND is a
rare,
lifelong genetic
condition that
mainly affects
males.
ND is thought
to
affect approximately
40
people
in the UK and 500
people globally,
although
this may be an
underestimate.
4
5
What
are
the common
features
and symptoms of
Norrie
Disease?
•
Children
and
young
people
with ND
have
vision impairment
from birth,
and most
develop
hearing
loss
that
starts
during
adolescence
•
Some p
e
op
l
e with ND also
e
xperience p
r
ob
l
ems with their
`
development, growth,
behaviour, sleep
and
feeding,
as
well
as
seizures
and
autism
•
The
features
and symptoms may
vary
in
different
children
and
young
people
with
ND
How
is Norrie Disease
managed?
ND is
suspected
in a person born with blindness,
known
as
congenital
blindness,
and is
confirmed
using clinical
genetic
testing.
There
is
currently
no
cure
for
ND as the
effects
of the
genetic change
took place during an individual’s
development
in the
womb.
However,
there
is help and
support
available
to
improve
the
lives
of
people
with
ND. The
management
of ND depends on the
symptoms and
features present,
and is
likely
to
require
input
from
a team of
different specialists.
The
following
doctors and
medical specialists
are
likely
to be
involved:
Ophthalmologist
A doctor
who
treats
eye
conditions
Paediatrician
A doctor who
treats
children
Endocrinologist
A doctor who
treats
hormonal
disorders
Occupational
Therapist
A
specialist
who focuses on
developing
skills
required
for
daily
living and
work
Physiotherapist
A
specialist
who
helps
to
restore
movement
and
function
6
7
Speech
and Language
Therapist
A
specialist
who
provides
advice
on communication, eating,
drinking and
swallowing
Dietitian
A
specialist
who
provides
advice on food and
nutrition
Clinical
Geneticist
A doctor who
treats
genetic
conditions
Audiologist
A
specialist
who
treats
hearing
loss
and
balance
disorders
Who
are
the
key
people involved
in caring for a
child
or
young
person with Norrie Disease in schools or
educational
settings?
Parents
and
Carers
Provide
general
support
at school and at
home
Specialist
Teachers
Specialist
learning
and
teaching
support can
be
provided
by
a
‘Qualified
Teacher
for Vision
Impairment’
(QTVI)
and
a
‘Qualified
Teacher
of
the
Deaf’
Habilitation
Support
Provides
1:1
training
to
develop
mobility,
navigation
and
independent living
skills
School
Counsellor
Provides
additional
support
to
improve
wellbeing
and
resilience
Special
Educational
Needs
Coordinator
(SENCo)
Liaises
between parents,
class teachers
and
teaching assistants.
They
play a
key role
in
creating
a
personalised
plan for a
child
that has
special educational needs,
which
should
be
reviewed
throughout
the
year
Living with Norrie
Disease
Children
with ND
rely
on sensory modalities other than
vision
to communicate, such as hearing and
touch.
Braille
is a
tactile reading
and writing system that is
used
by
people
who
are
blind or
have
a vision impairment. It uses
raised
dots to
represent letters, groups
of
letters
and
words.
Many
children
with ND experience hearing
loss,
which typically starts in adolescence and
generally
worsens
over
time. Hearing aids, and in some
cases,
cochlear
implants, can be used to support
a child
who
experiences hearing
loss.
As
children
with ND
usually have
normal hearing
before
their
teenage years, they often
develop
and maintain
good speech
and
language
skills.
A
child
or
young
person with ND
requires
care
and attention to
support
their physical, social, emotional and mental
wellbeing.
They
may
have
difficulty understanding and
expressing
how
they
are
feeling
and managing their
emotions.
Encourage
open and honest
conversations
with a
child
or
young
person with ND to discuss their condition, what is
happening to their body at
different stages
of their life,
what
they
can
expect
to happen in the
future
and what
steps and
interventions
can be put in place to
support
them, for
example
using hearing aids or considering the
use of
cochlear
implants if hearing
loss
becomes
apparent
during
adolescence.
Support
is
available
from
counselling services,
educational
specialists, healthcare professionals
and charities, for
children
with ND and their
family
members, to
learn
how
to adapt to
the
challenges
associated
with living with
ND.
Sensory
loss
can
8
9
impact
the
independence,
education
socialisation,
and
emotional
wellbeing
of
a
child
with
ND
How
to
effectively
communicate with a
child
or
young
person with Norrie
Disease
•
Make sure
that
you have
the
child’s
attention
before you start
talking;
speak
clearly
and at
your
normal
volume
and
pace
•
Always
use their name when
you start
to talk and identify
yourself
if
they
do not
recognise your
voice
•
It is also
important
to use the names of other
children
when talking
to them, so that the
intended recipient
of an instruction or
comment
is
clear
•
When
leaving
a
child
or
young
person with
ND,
it is
important
to
communicate this
verbally,
and to
encourage sighted
children
to do
the same.
This
can help them
keep
track
of staff and
friends
•
Language
can be
adapted
to contain
simple, short
and
descriptive
phrases
that
relate
to what the
child
is
doing
•
Staff
should
provide
regular,
additional
verbal explanations
in both
educational
and social settings
GENERAL GUIDANCE FOR SCHOOLS
AND
OTHER EDUCATIONAL
SETTINGS
Attending a school or
education
setting with Norrie
Disease
The
type and
level
of
support
required
at school depends on a
child’s
individual
learning needs. Special arrangements
may
need
to be made to facilitate
participation
in
various
school activities, such as school trips,
after-school
clubs,
assemblies,
sports
days and
exams.
Successful inclusion in a
range
of schools
can be
achieved,
even
if schools
are
initially
anxious about hosting a
child
with
sensory
impairment.
A
child’s
Education, Health and
Care
(EHC) plan
from
a Local Authority is an
important
document that is made in
accordance
with the
Children
and
Families
Act 2014. It
enables
the
child,
parent
and school staff to
work together
to plan
how
to best
support
a
child’s educational,
health and social
care
needs.
The
EHC
plan is
shared
with the school or
educational
setting, as
well
as the
professionals
who
have contributed
to the
development
of the
plan.
Educating a
child
with a sensory
impairment
requires
numerous
adaptations
and
careful planning
to
deliver
the
national
curriculum
A
QTVI
can
provide
support
to a
child
and their
family
during the
initial
visit
to a
school
10
11
Supporting
the
learning
of
children
and
young
people
with
Norrie
Disease
School
work,
including
exams
and
homework,
should
be
specifically
adjusted
to
meet
the
needs
of a
child
with
ND,
and
prepared
in
advance
of
lessons
to
encourage
participation
Children
with ND
may
need
more
time to
complete
tasks and
more
verbal
support
than
other
children
Qualified
Teacher
for
Vision
Impairment
The QTVI
plays
a
vital
role
in
supporting the
learning
of
children
and young
people
with
ND. This specialised
teacher
provides
advice
to
a
subject teacher and
a
teaching
assistant
on
approaches
to
delivering the
curriculum,
as
well
as
specialist
input
in
specific areas
e.g. methods
of
maths
in
braille
and
tactile diagrams.
Importantly,
the
QTVI
can
provide
1:1
support for
children
with
vision impairment, including
teaching using
contracted
Unified
English
Braille.
Qualified
Teacher
of
the
Deaf
If a
child
or
young
person
with
ND has a hearing impairment
that
could
impact their access
to the curriculum, a
Qualified
Teacher
of the Deaf
should
visit, as
appropriate,
to advise
on
possible
adjustments to
the
delivery
of the
curriculum,
and
strategies
to
encourage
participation
in
classroom
activities.
Planning
and
Materials
Weekly
planning
meetings
between
the
subject
teacher,
teaching assistant and
QTVI
are
encouraged.
Material can
be
shared
in
advance
of a
lesson
(pre-teaching)
to
allow
familiarisation and
feedback.
An
inclusive
curriculum
should
be
delivered
with
an emphasis on
learning
through
non-visual modes,
such as touch and hearing.
Learning materials
should
be made
available
in
braille,
audio,
tactile
or
multimedia
formats (e.g.
electronically).
Flexible
Learning
Extra
time
should
be
provided
to
allow children
with ND to
process
and
answer
written
questions. Staff
should
be
patient and
allow
a
child
time
to
explore
and
learn
at their
own
pace.
Effective
teamwork
and communication
between
staff members is
especially
important
to
ensure
that
they
are aware
of a
child’s
educational goals
and
needs.
12
13
Supporting
mobility of
children
and
young
people
with
Norrie
Disease
Mobility is
important
for all
people
with vision impairment: the amount of
independence that a
child
can
achieve
is
closely
related
to
how independently
mobile
they
are.
All
children need
to be
given
the
opportunity
to
explore
their
environment
and
to play outdoors.
For
a
child
or
young
person with
ND,
this can be
facilitated
with the additional
support
and
encouragement
of a habilitation
specialist.
This specialist
can help a
child
to
develop
important
road
safety skills in the
community,
and to plan a safe
route between
their home and
school.
A habilitation
specialist
can also
provide training
and
support
on
sighted
guide
technique
and
long
cane use, to both
children
with ND and school staff, to
help
a
child
navigate
their
environment.
Staff
training
to
support
children
and
young
people
with
Norrie
Disease
•
The
QTVI
will
provide training
to school staff on
how
to
support
a
child
or
young
person with
ND.
All staff who
interact
with a
child
with ND
should
be made
aware
of their
needs
and
receive
training
about
how
to
support
them at school. Staff
should
also monitor a
child’s progress
using their EHC plan
•
An informal personal
profile
can be written
by
a
child
and/or
their
parents
to detail the ‘do’s and don’ts’ of
interaction,
as
well
as a
positive
list of their
strengths
and
interests. This
profile
could
be
shared
with staff members and other
children,
as
appropriate
•
Awareness
days may be helpful to
educate
staff and
peers
about
ND to
ensure
that
everyone
is
informed
to an
appropriate
level
of
understanding
14
15
Adult
support
to
develop
and maintain friendships
can be
beneficial.
When
hosting a
child
with
ND
at
home,
parents
or
carers
can help to facilitate
communication and to
adapt the
environment
Improving interactions
with
peers
and
participation
in
extra-curricular
activities
The
play
needs
of a
child
who has a vision impairment
are
essentially
the same
as those of a
sighted
child,
and
should follow
the same
developmental
pattern,
even where development
is
delayed.
However,
blind or
partially sighted
children
can
experience
difficulties in making and sustaining friendships with their
peers.
Additionally,
children
with ND may
feel different
to their
peers
and may
struggle
with
participating
in
certain
activities.
•
Two
of the most
important
factors that impact the social
development
of
blind
children,
including making friends,
are
the lack of access to non-
verbal
communication and the
role
of adult
support
•
School staff play an
important
role
in
improving interactions between
children
with ND and their
peers.
School staff
should
educate
other
children
to help them understand
how everyone
is
special
and
different,
and
how they
can be
friendly
and helpful to one
another
•
It
also
is
important
to
show
classmates
how
to
effectively
communicate with
a
child
with
ND.
Awareness
should
be
raised
amongst
peers
that
children
with ND
struggle
to understand
non-verbal
communication and body
language.
Peers should
be
particularly
mindful of their
language
and
should
avoid
making
vague
statements (e.g. “it’s
over
there”) (see section
on
“How
to
effectively
communicate with a
child
or
young
person with Norrie
Disease”)
School staff
should
encourage
children
with ND to
verbally
describe their
actions,
expressions
and
feelings
while
interacting
with their
peers.
It is also
beneficial
to
encourage
them to talk about what is happening
around
them
and
what other
children are
doing.
Children
with ND may
require
prompting
or
reminding
of
certain
things (e.g. to
verbalise preferences;
to
share toys;
to choose friends to
share
activities with;
and to put
feelings
about other
children
into
words).
Children should
be
encouraged
to
participate
in
play-based learning
and
functional play with other
children,
both inside and outside the
classroom.
Access
should
be
provided
to
afterschool
activities, such as
sports
clubs, to
encourage
a healthy
lifestyle.
However,
it is also
important
to
allow
a
child
or
young
person with ND to play on their
own
at times, as
well
as with their
friends
without 1:1
support.
School staff
should
encourage peers
to include
children
and
young
people
with
ND in social activities and facilitate this
process
by
organising
and adapting
classroom games
and activities. It is
important
to note that
children
with ND
may
require
help to
locate
friends in the
classroom
or
playground.
Direct interaction
and socialisation can be
maximised
by
creating
situations
where
small
groups
can
work
or play
together.
Awareness
assemblies
organised
by a
QTVI
may be
helpful to
educate
peers how
to
interact
more
effectively
with
a
child
with
ND
Flexible
grouping
arrangements
and
buddy
schemes
may
help to facilitate
social
interactions
17
16
[It is
important
to] get the
child
braille-trained
as
early
as
possible
and using the
BrailleNote
touch. In
our case this has
enabled
the
child
to
keep
up with
learning
at the same pace as his
peers
so without the
braille knowledege
it’s
very
hard
for the
child
to
move
at a
similar
academic pace as his
peers
“
A
Perkins
Brailler
The
basic
writing
tool
for a blind
child
Refreshable
Braille
displays
Installed
on desktop or
laptop
computers
Electronic Braille
notetakers
Such as the
BrailleNote
Touch
or
Braille
Sense
Polaris
(modern
tablet
interfaces
that can
improve
communication)
A
tactile timetable
Facilitates
independent
working
Specialist
IT
equipment
Such as
speech
output
programmes
for
computers,
(may
be
recommended
by
the
QTVI)
Zyfuse
Heater
An
example
of
equipment used
to
produce
raised
diagrams
Hearing
aids and/or a
radio
aid/assistive
listening
device
Worn
by
children
with ND
who
experience
hearing
loss
A
long
cane
A common aid
used
by
children
with
vision
impairment
Specialist equipment used
by children
with Norrie
Disease
Specialist equipment
is
often
used
by
children
and
young
people
with ND to
facilitate their
education
at school and at home, and may
include:
Parent
of a
child
with
ND
19
18
”
AGE-SPECIFIC
GUIDANCE
Pre-school/nursery
(ages
3–5)
At nursery a
child
is
prepared
for the
transition
to school life.
Teachers should
aim to
develop
a
child’s
sense of time and space, with
clearly identifiable
sensory cues
throughout
the
day.
Exploring
the
Environment
•
Movement
should
be
encouraged
to
allow
a
child
to
explore
objects
with
their mouth and
feet,
as
well
as
encouraging
the use of their
hands
•
Infants
gain
a wide
variety
of information
through
their mouths
before
they
start
to
explore
with their
hands
•
Children
with ND will
need
to
move from
using the
whole
palm to
finger
pads in
order
to determine shape pattern (these
are
the
prerequisites
of
braille, should
this
become
their
preferred
medium)
•
A
Perkins
Brailler
can be
used
to
produce “scribble”
in
braille
Sensory
Input
•
Sensory
resource
boxes
or
treasure baskets
containing items of
various
weight, size, texture,
colour,
taste,
temperature,
and sound can be
used
to
stimulate one or
more
of the
five
senses
•
This
can help a
child learn
by
exploration
and
experience,
and
develops
a
child’s strength, dexterity
and
sensitivity
•
It will also
encourage
curiosity and
tolerance towards
new
experiences
Repetitive
and self-stimulatory behaviours
•
Early intervention
to
reduce
behaviours, such as
rocking,
eye
poking,
hand flapping and a
low
hanging head is
important
•
Having open
conversations
about a
child’s
blindisms is
encouraged
and can help to
support
a
child
with
ND.
This
could
involve
talking
to the
child
about why
they
are
doing these behaviours and discussing
the potential impact, for
example
how
their blindisms may
make
social
integration challenging
•
If
appropriate,
a habit
could
be
replaced by
a
less
harmful habit, such
as the use of
fiddle
toys, stress
balls or physical
exercise
•
A
child
with ND may
need prompting
to stop
certain
behaviours (e.g. to
raise
their head or stop
rocking)
•
Physiotherapy
or
regular exercise
may help to
strengthen core muscles
to
support
a
child’s
head
21
20
Educational
Support
•
1:1
support
is
especially important
at this
age
•
Educational materials
should
be
tailored
to the individual
child
(e.g.
tactile
nursery rhyme
prompt cards
and
tactile
books)
•
A
child’s concentration
can be
improved
by reducing distractions,
such as
sound
from
talking and
movement
•
Provide opportunities
for a
child
to play in a quiet
area
away from
other
children
at
times
Safety
•
Ensure
that
children are
appropriately
supervised
•
A risk assessment of the
environment
should
be
performed;
staff
should
be
on the
lookout
for potential
hazards
•
Pay
attention to
objects scattered
on the
floor,
which can be trip
hazards
•
Doors can
trap
fingers.
Try
and
keep
doors either
wedged
fully
open or
firmly
shut
•
It can be helpful to
define
and limit the play space
around
the
child
to
create
a ‘den’ or
secure
familiar base for play
Primary school
(ages
5–11)
Primary school is a
child’s
first
experience
of school life.
This
can be a
challenging
time for many
children
with
ND,
as
they
begin to understand that
they
are
different from
their
peers.
Educational
Support
•
Allow children
with ND to
explore
new
things at a
suitable
pace
•
Facilitate interactions
with other
children
in the
classroom
•
Curriculum materials
should
be chosen that
encourage
the
development
of
dexterity
and
fine finger
control,
such as
tactile
books
•
The
assessment of a
child’s development
(such as the
early stages
of
pretend
play)
should
be
adapted,
with an emphasis on sounds or
words, rather
than
on the manipulation of
objects
•
Children
with ND
should
also be
encouraged
to
learn
skills for personal
care,
such as
washing, dressing
and
toileting
independently
•
A
QTVI
will
provide
more
information to individual schools to
support
access
to
learning
for pupils with
ND
Educational
Environment
•
Optimise the
educational environment
by
providing work
spaces (including
a
dedicated area
for a
child’s Perkins
Brailler)
and considering seating
arrangements
•
Avoid rearranging
a
classroom
to
reduce
the chance that a
child
with ND will
become disorientated
•
Position
the
child
away
from
sources
of noise (doors and
windows
could
be
closed
to
reduce
noise)
•
Minimise the distance
between
the teacher
and
the
child
to facilitate
communication
Fabrics
can
be
used
to
improve
room
acoustics
“
P
ositioning
•
Ensure
that the
child
is in the most
suitable
position to use their
hands,
whether
seated,
standing or
lying
down
•
Consider the placement of
objects (objects
which
are
difficult to
handle
could
be hung
down around
a
child
for them to touch and listen
to)
23
22
Don’t
let children
or staff
‘mother’ the
child”
P
a
r
ent of a chi
l
d with
”
ND
Secondary
school
(ages
11–16)
At
secondary
school a
child
with ND may
require
adjustments to the
delivery
of
the national curriculum to
ensure
that their
education
is
optimised
and
adapted
to their
specific
learning needs.
The QTVI
will
provide
more
information to
individual schools to
support
access to
learning
for pupils with
ND.
It can also
be
helpful for schools to discuss with
parents how
to most
effectively approach
and
manage
these
educational
and
pastoral care
challenges.
Hearing
Loss
•
Hearing
loss
may
start
during
secondary
school (health
check-ups
may
become more
frequent)
•
If
there
is any cause for concern, the school
should
advise the
parent
or
legal
guardian
of a
child
with ND to
seek medical
advice for
referral
to a
local
audiology
clinic for a hearing
test
•
A
child
with ND and hearing
loss
may
benefit
from
the use of hearing aids
or
assistive
listening
devices
•
As
mild
hearing
loss
may be difficult to
identify,
it is
important
that
teachers
are able
to
recognise
the signs of hearing
loss
in a
child
•
The
signs of hearing
loss
can fluctuate, meaning that a
child
with ND
may
display these on some days but not
others
•
The
onset of hearing
loss
may
have
an emotional impact on a
child
and
their
family,
as sound is
often
an
important aspect
of blind
child’s
life
•
Counselling services can
provide psychological support
for hearing
loss
to
a
child
with ND and their
family
•
A
Qualified
Teacher
of the Deaf,
from
the
local
authority
specialist education
service for deaf
children,
is an
important source
of advice and
support
Signs that a
child
or
young
person may be
experiencing
hearing
loss
include:
•
Does not
respond
when
called
•
Constantly
says “what?” or asks for
speech
to be
repeated
•
Does not
follow
instructions
straightaway
•
Often
misunderstands or
ignores
instructions
•
Makes little
or no contribution to
group
activities or
discussions
•
Complains about not being
able
to
hear
•
Tires
easily
•
Talks
louder
or
softer
than
expected
•
Becomes easily
frustrated
•
Appears
inattentive
Always allow
time for the
child
to do things as
independently
as
possible;
this
takes
much
more
time than
sighted children
but it is the
key
to
independence”
“
Parent
of a
child
with
ND
24
25
”
Sixth
form/college (ages
16–18)
As
young
people
with ND
approach
adulthood during sixth form and
college,
there
should
be a
strong
focus on
developing
skills for independent
living.
Independence
•
The need
for
developing
independence
should
be
carefully balanced
with the
need
for
support
•
A
young
persons’
views
and choices
should
be
elicited
and
respected
•
Teachers should
set high
expectations
to push
young
people towards
achieving
their potential
•
Teachers should
be mindful of the
importance
of asking a
young
person with
ND if help is
needed before providing
help
•
Activities and
learning programmes
should
be
designed
to foster
strong
attitudes of
self-reliance,
self-belief and
courage
•
Vital skills
should
be
developed,
such as
preparing
food and
cooking
Hearing
Loss
•
As hearing
loss
in ND tends to
worsen
over
time,
strategies
should
be put in
place to
meet
a
young
person’s dynamic multi-sensory
requirements:
a
regular
review
by
a
Qualified
Teacher
of the Deaf or SENCo can facilitate
this
Transition
to Adult
Life
•
Available future
help and
support
should
be
signposted
to
young
people
with
ND
•
Sixth forms or
colleges should
seek partnerships
with
employment
services,
businesses, housing
agencies,
disability
organisations
and
extra-curricular
groups
•
Options for independent living
should
be
explored,
including
supported
living
arrangements,
housing
benefits
and social
care
support
•
As
future employment
can be a daunting step for a
young
person with
sight
loss
or hearing
loss, extra
support
should
be made
available
•
Sixth forms or
colleges
can
provide
career
advice and highlight
different
employment
options, such as
supported
internships,
apprenticeships
and
traineeships
•
Schools can
prompt young
people
with ND and their families to
discuss
the
transition
to adult health services and adult social
care
with a
healthcare
professional
26
27
THE NORRIE DISEASE
FOUNDATION
USEFUL
CONTACTS
AND
RESOURCES
The
Norrie Disease
Foundation
is a
UK-based
charity who
promotes pioneering
research
into ND and
provides
vital
support
to families.
The
ND community in the UK can
provide
information and
support
for
children
with ND and their
families.
•
Further
information can be found at:
www.norriedisease.org.uk
•
The
ND community can also be
reached
on social
media
at:
https://www.facebook.com/NorrieDiseaseUK
•
Local
ophthalmology
services
•
Local
audiology
services
•
Royal
National Institute of Blind
People
(RNIB):
www.rnib.org.uk
•
SENSE (a charity
supporting everyone
who is deaf and blind):
www.sense.org.uk/get-support/information-and- advice/support-for-
children
•
SEND
Information,
Advice and
Support
Service (SENDIASS):
www.kids.org.uk/sendiass
•
The
Norrie Disease
Foundation:
www.norriedisease.org.uk
•
UCL
Great
Ormond
Street
Institute of
Child
Health
(ICH):
www.ucl.ac.uk/child-health
•
Great
Ormond
Street
Hospital (GOSH):
www.gosh.nhs.uk
28
29
30
31
REFERENCES
1.
Sense.
The
experiences
of
people
with
rare
syndromes
and sensory
impairments
in hospitals and clinics. 2015.
Available
at:
www.birmingham.ac.uk/research/victar/
research/deafblind-attending-rare-syndrome-clinics.aspx. Accessed
20/12/2019.
2.
Sims KB.
NDP-Related
Retinopathies.
GeneReviews.
2014.
Available
at:
www.ncbi.
nlm.nih.gov/books/NBK1331. Accessed
20/12/2019.
3.
Goodyear
HM, Sonksen PM, McConachie H. Norrie’s disease: a
prospective
study
of
development. Arch
Dis
Child.
1989; 64(11):
1587–92.
4.
Unique.
What is Norrie Disease?. 2018.
Available
at:
www.norriedisease.org.uk/what-
is-norrie-disease.
Accessed
20/12/2019.
5.
Jacques
D,
Dubois
T,
Zdanowicz
N, Gilain C, Garin
P.
Cochlear
Implants and
Psychiatric
Assessments: a Norrie Disease Case
Report. Psychiatr
Danub.
2017;29(Suppl 3):
259–261.
6.
Department
for Education.
Children
and
Families
Act 2014. 2014.
Available
at:
www.legislation.gov.uk/ukpga/2014/6/contents. Accessed
13/01/2020.
7.
Department
for Education.
Special educational needs
and disability code of
practice:
0 to 25
years.
2015.
Available
at:
www.gov.uk/government/publications/
send-code-of-practice-0-to-25. Accessed
13/01/2020.
8.
Department
for Education. What
works:
hearing
loss
and the
transition
to adulthood.
2017.
Available
at:
www.england.nhs.uk/wp-content/uploads/2017/09/hearing-loss-
what-works-guide-transition-to-adulthood.pdf. Accessed
20/12/2019.
9.
Durham County Council.
How your
child
with hearing impairments is
supported
in school.
Available
at:
www.stjohnsrc.org.uk/sites/default/files/how_your_child_
with_hearing_impairments_is_supported_in_school.pdf. Accessed
20/12/2019.
10.
National
Deaf
Children’s Society. Supporting
the
achievement
of deaf
children
in primary schools. 2015.
Available
at:
www.ndcs.org.uk/documents-and-resources/
supporting-the-achievement-of-deaf-children-in-primary-schools. Accessed
20/12/2019.
11.
Royal
National Institute of Blind
People. Teaching
and Learning guidance.
Available
at:
www.rnib.org.uk/services-we-offer-advice-professionals-education-professionals/
guidance-teaching-and-learning. Accessed
20/12/2019.
12.
Royal
National Institute of Blind
People. Focus
on
Foundation:
Including
children
who
are
blind or
partially sighted
in
early years
settings. 2012.
Available
at:
www.
rnib.org.uk/sites/default/files/focus_on_foundation_0.pdf. Accessed
20/12/2019.
13.
Department
for Education. Counselling in schools: a blueprint for the
future.
2016.
Available
at:
www.gov.uk/government/publications/counselling-in-schools.
Accessed
20/12/2019.
This
educational
leaflet
was
developed
for the Norrie Disease
Foundation
on a
pro
bono basis
by
Costello Medical
Norrie Disease (ND) is a rare genetic condition affecting vision and hearing. Learn about its causes, symptoms, management, and how to support affected individuals in educational settings. This guidance offers insights for schools, teachers, and parents on effective communication, learning strategies, mobility, and interactions.
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Guidance for Schools and Educational Settings to Support Children and Young People with Norrie Disease
CONTENTS General guidancefor schools and other educationalsettings 10 Introduction to Norrie Disease (ND) 4 What i sND? Co m m o n feat ures and s ym p t o m s Caus es M anagem ent Li vi ng wi t h ND K ey p eo p l e i n s cho o l s o ro t her educat i o nal s et t i ngs A t t endi ng s cho o l wi t hND Effect i veco m m uni cat i o n Learni ng and t eachi ng S t aff t rai ni ng M o bi l i t y Peer i nt eract i o ns and ext r a- curr i cul aract i vi t i es S p eci al i s tequi p m ent The NorrieDisease Foundation 28 20 Age-specific guidance Thi s l eaflet ai m s t o p r o vi de general i nfo rm at i o n abo ut No rri e Di s eas e ( ND) , i t s m anagem ent and ho w t o s up p o rt t he educat i o n o f chi l dren and yo ung p eo p l e i n s cho o l s and educat i o nal s et t i ngs . Yo u wi l l find t hi s l eaflet us eful i f yo u wo rk i n a s cho o l o r o t her educat i o nal s et t i ng wi t h chi l dren o r yo ung p eo p l e wi t h ND. I f yo u are t he p arent o r carer o f a chi l d o r yo ung p ers o nwi t h ND, t hen yo u co ul d us e t hi s gui de t o engage wi t h t he s cho o l o r educat i o nal s et t i ng abo ut yo ur chi l d sneeds . Pre- s cho o l /nurs ery ( ages 3 5 ) Pri m ary s cho o l S eco ndary s cho o l ( ages 11 16 ) S i xt h- fo rm /co l l ege ( ages 16 18) ( ages 5 11) Usefulcontactsand resources 29 Thi s l eaflet was p ro duced wi t h t he hel p o f m any p eo p l e, i ncl udi ng chi l dren and yo ung p eo p l e wi t h ND, t hei r p arent s , and Qual i fied Teachers o f t he Vi s i o n I m p ai red and t heDeaf. 30 References
INTRODUCTION TO NORRIEDISEASE What causes Norrie Disease? O ur bo di es are m ade up o f t ri l l i o ns o f cel l s . Thes e cel l s co nt ai n an i ns t ruct i o n m anual m ade up o f ap p ro xi m at el y 20, 000 genes , whi ch t el l t he bo dy ho w t o devel o p and funct i o n. ND i s caus ed by a m i s p ri nt ( m ut at i o n) i n o ne o f t hes e genes , cal l ed t he ND p s eudo gl i o m a ( NDP) gene. Thi s gene co nt ai ns i ns t ruct i o ns fo r m aki ng a p ro t ei n cal l ed No rri n, whi ch i s i m p o rt ant fo r t he devel o p m ent and funct i o n o f p art s o f t he eye and i nner ear . A p ers o n bo rn wi t h ND do es no t have a no rm al funct i o ni ng NDP gene, and t herefo re do es no t m ake No rri n t hat wo rks co rr ect l y. What is Norrie Disease (ND)? ND i sa r ar e,l i fel o ng genet i c co ndi t i o n t hatm ai nl y affect sm al es .ND i st ho ught t o affectap p ro xi m at el y 4 0 p eo p l e i n t he UK and 5 00 p eo p l e gl o bal l y,al t ho ugh t hi sm ay be an underes t i m at e. No rri n i s i nvo l ved i n p ro ces s es t hat are bel i eved t o be cri t i cal fo r t he devel o p m ent o f cel l s i n t he ret i na ( t he t hi n l ayer at t he back o f t he eye t hat s ens es l i ght and co l o ur) and t he es t abl i s hm ent o f a bl o o d s up p l y t o t he ret i na and t he i nner ear . M ut at i o n o f t he No rri n p ro t ei n res ul t s i n bl i ndnes s fr o m bi rt h i n ND, as wel l as heari ng l o s s i n s o m e p eo p l e. What are the common features and symptoms ofNorrie Disease? Chi l dr en and yo ung p eo p l e wi t h ND have vision impairment fr o m bi r t h, and m o s t devel o p hearing loss t hat s t art s duri ng ado l es cence S o m e p eo p l e wi t h ND al s o exp eri ence p r o bl em s wi t h t hei r ` devel o p m ent , gro wt h, behavi o ur , s l eep and feedi ng,as wel l as s ei zures and aut i s m The feat ures and s ym p t o m s m ay vary i n di fferent chi l dr en and yo ung p eo p l e wi t h ND 4 5
How is Norrie Disease managed? ND i s s us p ect ed i n a p ers o n bo rn wi t h bl i ndnes s , kno wn as co ngeni t albl i ndnes s , and i s co nfirm ed us i ng cl i ni cal genet i c t es t i ng. There i s current l y no cure fo r ND as t he effect s o f t he genet i c change t o o k p l ace duri ng an i ndi vi dual s devel o p m ent i n t he wo m b. H o wever , t here i s hel p and s up p o rt avai l abl e t o i m p r o ve t he l i ves o f p eo p l e wi t h ND. The m anagem ent o f ND dep ends o n t he s ym p t o m s and feat ures p res ent , and i s l i kel y t o r equi re i np ut fr o m a t eam o f di fferent s p eci al i s t s . Dietitian Speech and Language Therapist A s p eci al i s t who p ro vi des advi ce o n co m m uni cat i o n, eat i ng, dri nki ng and s wal l o wi ng A s p eci al i s t who p ro vi des advi ce o n fo o d and nut ri t i o n The following doctors and medical specialists are likely to be involved: Audiologist A s p eci al i s t who t reat s heari ng l o s s and bal ance di s o rders Physiotherapist A s p eci al i s t who hel p st o r es t o r e m o vem ent and funct i o n Clinical Geneticist A do ct o rwho t reat s genet i cco ndi t i o ns Ophthalmologist A do ct o rwho t reat s eye co ndi t i o ns Occupational Therapist A s p eci al i s t who fo cus es o n devel o p i ng s ki l l sr equi red fo r dai l y l i vi ng and wo rk Paediatrician A do ct o r who t reat s chi l dr en Endocrinologist A do ct o r who t reat s ho rm o naldi s o rders 6 7
Who are the key people involved in caring for a child or young person with Norrie Disease in schools or educationalsettings? Living with NorrieDisease Chi l dr en wi t h ND r el y o n s ens o ry m o dal i t i es o t her t han vi s i o n t o co m m uni cat e, s uch as heari ng and t o uch. Brai l l e i s a t act i l e readi ng and wri t i ng s ys t em t hat i s us ed by p eo p l e who are bl i nd o r have a vi s i o n i m p ai rm ent . I t us es rai s ed do t s t o rep res ent l et t ers , gro up s o f l et t ers and wo rds . M any chi l dren wi t h ND exp eri ence heari ng l o s s , whi ch t yp i cal l y s t art s i n ado l es cence and general l y wo rs ens o ver t i m e. H eari ng ai ds , and i n s o m e cas es , co chl ear i m p l ant s , can be us ed t o s up p o rt a chi l d who exp eri ences heari ng l o s s . School Counsellor Pro vi des addi t i o nal s up p o rt t o i m p r o ve wel l bei ng and res i l i ence Habilitation Support Pro vi des 1: 1t rai ni ng t o devel o p m o bi l i t y, navi gat i o n and i ndep endent l i vi ng s ki l l s A s chi l dr en wi t h ND us ual l y have no rm al heari ng befo re t hei r t eenage years , t hey o ft en devel o p and m ai nt ai n go o d s p eech and l anguage s ki l l s . A chi l d o r yo ung p ers o n wi t h ND r equi res care and at t ent i o n t o s up p o rt t hei r p hys i cal , s o ci al , em o t i o nal and m ent alwel l bei ng. Parents and Carers Pro vi degener als up p o rt at s cho o l and atho m e They m ay have di ffi cul t y unders t andi ng and exp res s i ng ho w t hey are feel i ng and m anagi ng t hei rem o t i o ns . Sensory losscan impactthe independence, education socialisation, and emotional wellbeingof a child withND Enco urage o p en and ho nes t co nvers at i o ns wi t h a chi l d o r yo ung p ers o n wi t h ND t o di s cus s t hei r co ndi t i o n, what i s hap p eni ng t o t hei r bo dy at di fferent s t ages o f t hei r l i fe, what t hey can exp ect t o hap p en i n t he fut ure and what s t ep s and i nt ervent i o ns can be p ut i n p l ace t o s up p o rt t hem , fo r exam p l e us i ng heari ng ai ds o r co ns i deri ng t he us e o f co chl ear i m p l ant s i f heari ng l o s s beco m es ap p arent duri ng ado l es cence. Special Educational NeedsCoordinator (SENCo) Li ai s es bet ween p ar ent s , cl as s t eacher s and t eachi ng as s i s t ant s . They p l ay a key r o l e i n creat i ng a p ers o nal i s ed p l an fo r a chi l d t hat has s p eci al educat i o nal needs , whi ch s ho ul d be r evi ewed t hro ugho ut t he year Specialist Teachers S p eci al i s t l ear ni ng and t eachi ng s up p o r t can be p r o vi ded by a Qual i fied Teacher fo r Vi s i o n I m p ai r m ent ( QTVI ) and a Qual i fied Teacher o f t heDeaf S up p o rt i s avai l abl e fro m co uns el l i ng s ervi ces , educat i o nal s p eci al i s t s , heal t hcare p ro fes s i o nal s and chari t i es , fo r chi l dr en wi t h ND and t hei r fam i l y m em bers , t o l ear n ho w t o adap t t o t he chal l enges as s o ci at ed wi t h l i vi ng wi t h ND. 8 9
GENERAL GUIDANCE FOR SCHOOLSAND OTHER EDUCATIONALSETTINGS How to effectively communicate with a child or young person with Norrie Disease M ake s ur e t hat yo u have t he chi l d s at t ent i o n befo re yo u s t art t al ki ng; s p eak cl ear l y and at yo ur no rm al vo l um e and p ace A l ways us e t hei r nam e when yo u s t art t o t al k and i dent i fy yo urs el fi f t hey do no t reco gni s e yo urvo i ce Attending a school or education setting with Norrie Disease I t i s al s o i m p o rt ant t o us e t he nam es o f o t her chi l dr en when t al ki ng t o t hem , s o t hat t he i nt ended reci p i ent o f an i ns t ruct i o n o rco m m ent i scl ear The t yp e and l evel o f s up p o rt r equi red at s cho o l dep ends o n a chi l d s i ndi vi dual l earni ng needs . S p eci al arrangem ent s m ay need t o be m ade t o faci l i t at e p art i ci p at i o n i n vari o us s cho o l act i vi t i es , s uch as s cho o l t ri p s , aft er- s cho o l cl ubs , as s em bl i es , s p o rt s days and exam s . S ucces s ful i ncl us i o n i n a r ange o f s cho o l s can be achi eved, even i f s cho o l s are i ni t i al l y anxi o us abo ut ho s t i ng a chi l d wi t h s ens o ry i m p ai rm ent . When l eavi ng a chi l d o r yo ung p ers o n wi t h ND, i t i s i m p o rt ant t o co m m uni cat e t hi s ver bal l y, and t o enco urage s i ght ed chi l dr en t o do t he s am e. Thi s can hel p t hem keep t rack o f s t aff and fri ends A chi l d s Educat i o n, H eal t h and Car e ( EH C) p l an fr o m a Lo cal A ut ho ri t y i s an i m p o rt ant do cum ent t hat i s m ade i n acco rdance wi t h t he Chi l dr en and Fam i l i es A ct 2014 . I t enabl es t he chi l d, p arent and s cho o l s t aff t o wo rk t o get her t o p l an ho w t o bes t s up p o rt a chi l d s educat i o nal , heal t h and s o ci al care needs . The EH C p l an i s s hared wi t h t he s cho o l o r educat i o nal s et t i ng, as wel l as t he p ro fes s i o nal s who have co nt ri but ed t o t he devel o p m ent o f t he p l an. Language can be adap t ed t o co nt ai n s i m p l e, s ho rt and des cri p t i ve p hras es t hat rel at e t o what t he chi l d i sdo i ng S t aff s ho ul d p ro vi de r egul ar , addi t i o nal verbal exp l anat i o ns i n bo t h educat i o nal and s o ci al s et t i ngs A QTVI can provide support to a child and their family during theinitial visit to a school Educating a child with a sensory impairmentrequires numerousadaptations and careful planning to deliver thenational curriculum 10 11
Supporting the learning of children and young people with Norrie Disease Qualified Teacherfor Vision Impairment Qualified Teacherof the Deaf Planningand Materials Flexible Learning The QTVI p l ays a vi t al r o l e i n s up p o r t i ng t he l ear ni ngo f chi l dr en and yo ung p eo p l e wi t h ND. Thi s s p eci al i s ed t eacher p r o vi des advi ce t o a s ubj ect t eacher and at eachi ng as s i s t ant o n ap p ro aches t o del i veri ng t hecurr i cul um , as wel l as s p eci al i s t i np uti n s p eci fic areas e. g. m et ho ds o f m at hs i n br ai l l eand t act i l e di agr am s .I m p o r t ant l y, t he QTVI can p r o vi de 1: 1 s up p o r t fo r chi l dr en wi t h vi s i o n i m p ai r m ent , i ncl udi ng t eachi ng us i ng co nt r act ed Uni fied Engl i s h Br ai l l e. I f a chi l d o r yo ung p ers o nwi t h ND has a heari ng i m p ai rm ent t hat co ul d i m p act t hei r acces s t o t he curri cul um , a Qual i fied Teacher o f t he Deaf s ho ul d vi s i t , as ap p ro p ri at e, t o advi s e o n p o s s i bl e adj us t m ent s t o t he del i very o f t hecurri cul um , and s t rat egi es t o enco urage p art i ci p at i o n i n cl as s ro o m act i vi t i es . Weekl y p l anni ng m eet i ngs bet ween t he s ubj ect t eacher, t eachi ng as s i s t ant and QTVI are enco uraged. M at eri al can be s hared i n advance o f a l es s o n ( p re- t eachi ng) t o al l o w fam i l i ari s at i o n and feedback. A n i ncl us i ve curri cul um s ho ul d be del i vered wi t h an em p has i s o n l earni ng t hro ugh no n- vi s ual m o des , s uch as t o uch and heari ng. Learni ng m at eri al s s ho ul d be m ade avai l abl e i n brai l l e, audi o , t act i l e o r m ul t i m edi a fo rm at s ( e. g.el ect ro ni cal l y) . Ext ra t i m e s ho ul d be p r o vi ded t o al l o w chi l dren wi t h ND t o p ro ces s and ans wer wri t t en ques t i o ns . S t aff s ho ul d be p at i ent and al l o w a chi l d t i m e t o exp l o re and l ear n at t hei r o wn p ace. Effect i vet eam wo rk and co m m uni cat i o n bet ween s t aff m em bers i s es p eci al l y i m p o rt ant t o ens ure t hat t hey are awar e o f a chi l d s educat i o nal go al s and needs . School work, including exams and homework, should be specifically adjusted to meet the needs of a child withND, and prepared inadvance of lessons to encourage participation Children with ND may need more time to complete tasks and more verbal support than other children 12 13
Supporting mobility of children and young people with Norrie Disease M o bi l i t y i s i m p o rt ant fo r al l p eo p l e wi t h vi s i o n i m p ai rm ent : t he am o unt o f i ndep endence t hat a chi l d can achi eve i s cl o s el y rel at ed t o ho w i ndep endent l y m o bi l e t hey are. Staff training to support children and young people with Norrie Disease The QTVI wi l l p ro vi de t rai ni ng t o s cho o l s t aff o n ho w t o s up p o rt a chi l d o r yo ung p ers o n wi t h ND. A l l s t aff who i nt eract wi t h a chi l d wi t h ND s ho ul d be m ade aware o f t hei r needs and r ecei ve t rai ni ng abo ut ho w t o s up p o rt t hem at s cho o l . S t aff s ho ul d al s o m o ni t o r a chi l d s p ro gres s us i ng t hei r EH C p l an A l l chi l dr en need t o be gi ven t he o p p o rt uni t y t o exp l o re t hei r envi ro nm ent and t o p l ay o ut do o rs . Fo r a chi l d o r yo ung p ers o n wi t h ND, t hi s can be faci l i t at ed wi t h t he addi t i o nal s up p o rt and enco uragem ent o f a habi l i t at i o n s p eci al i s t . Thi s s p eci al i s t can hel p a chi l d t o devel o p i m p o rt ant r o ad s afet y s ki l l s i n t he co m m uni t y, and t o p l an a s afe ro ut e bet ween t hei r ho m e and s cho o l . A n i nfo rm al p ers o nal p r o fil e can be wri t t en by a chi l d and/o rt hei r p arent s t o det ai l t he do s and do n t s o f i nt eract i o n, as wel l as a p o s i t i ve l i s t o f t hei r s t rengt hs and i nt eres t s . Thi s p r o fil e co ul d be s hared wi t h s t aff m em bers and o t her chi l dr en, as ap p ro p ri at e A habi l i t at i o n s p eci al i s tcan al s o p ro vi de t rai ni ng and s up p o r to n s i ght ed gui de t echni que and l o ng cane us e,t o bo t h chi l dr en wi t h ND and s cho o ls t aff,t o hel p a chi l d navi gat e t hei renvi ro nm ent . A warenes s days m ay be hel p ful t o educat e s t aff and p eers abo ut ND t o ens ure t hat everyo ne i s i nfo rm ed t o an ap p ro p ri at e l evel o f unders t andi ng 14 15
S cho o l s t aff s ho ul d enco urage chi l dr en wi t h ND t o verbal l y des cri be t hei r act i o ns , exp res s i o ns and feel i ngs whi l e i nt eract i ng wi t h t hei r p eers . I t i s al s o benefici al t o enco urage t hem t o t al k abo ut what i s hap p eni ng aro und t hem and what o t her chi l dr en are do i ng. Improving interactions with peers and participation in extra-curricular activities The p l ay needs o f a chi l d who has a vi s i o n i m p ai rm ent are es s ent i al l y t he s am e as t ho s e o f a s i ght ed chi l d, and s ho ul d fo l l o w t he s am e devel o p m ent al p at t ern, even where devel o p m ent i s del ayed. H o wever , bl i nd o r p art i al l y s i ght ed chi l dr en can exp eri ence di ffi cul t i es i n m aki ng and s us t ai ni ng fri ends hi p s wi t h t hei rp eers . A ddi t i o nal l y, chi l dr en wi t h ND m ay feel di fferent t o t hei r p eers and m ay s t r uggl e wi t h p art i ci p at i ng i n cert ai n act i vi t i es . Chi l dr en wi t h ND m ay r equi re p ro m p t i ng o r rem i ndi ng o f cert ai n t hi ngs ( e. g. t o verbal i s e p references ; t o s hare t o ys ; t o cho o s e fri ends t o s hare act i vi t i es wi t h; and t o p ut feel i ngs abo ut o t her chi l dr en i nt o wo rds ) . Two o f t he m o s t i m p o rt ant fact o rs t hat i m p act t he s o ci al devel o p m ento f bl i nd chi l dr en, i ncl udi ng m aki ng fri ends , are t he l ack o f acces s t o no n- verbal co m m uni cat i o n and t he r o l e o f adul ts up p o rt S cho o l s t aff p l ay an i m p o rt ant r o l e i n i m p ro vi ng i nt eract i o ns bet ween chi l dr en wi t h ND and t hei r p eers . S cho o l s t aff s ho ul d educat e o t her chi l dr en t o hel p t hem unders t and ho w everyo ne i s s p eci al and di fferent , and ho w t hey can be fri endl y and hel p ful t o o ne ano t her Chi l dr en s ho ul d be enco ur aged t o p art i ci p at e i n p l ay- bas ed l earni ng and funct i o nal p l ay wi t h o t her chi l dr en, bo t h i ns i de and o ut s i de t he cl as s ro o m . A cces s s ho ul d be p r o vi ded t o aft ers cho o l act i vi t i es , s uch as s p o rt s cl ubs , t o enco urage a heal t hy l i fes t yl e. H o wever , i t i s al s o i m p o rt ant t o al l o w a chi l d o r yo ung p ers o n wi t h ND t o p l ay o n t hei r o wn at t i m es , as wel l as wi t h t hei rfri ends wi t ho ut 1: 1 s up p o rt . I t al s o i s i m p o rt ant t o s ho w cl as s m at es ho w t o effect i vel y co m m uni cat e wi t h a chi l d wi t h ND. A warenes s s ho ul d be r ai s ed am o ngs t p eers t hat chi l dr en wi t h ND s t r uggl e t o unders t and no n- verbal co m m uni cat i o n and bo dy l anguage. Peer s s ho ul d be p art i cul arl y m i ndful o f t hei r l anguage and s ho ul d avo i d m aki ng vague s t at em ent s ( e. g. i t s o ver t here ) ( s ee s ect i o n o n H o w t o effect i vel y co m m uni cat e wi t h a chi l d o r yo ung p ers o n wi t h No rri e Di s eas e ) S cho o l s t aff s ho ul d enco urage p eers t o i ncl ude chi l dr en and yo ung p eo p l e wi t h ND i n s o ci al act i vi t i es and faci l i t at e t hi s p ro ces s by o rgani s i ng and adap t i ng cl as s ro o m gam es and act i vi t i es . I t i s i m p o rt ant t o no t e t hat chi l dr en wi t h ND m ay r equi re hel p t o l o cat e fri ends i n t he cl as s ro o m o rp l aygro und. Di rect i nt eract i o n and s o ci al i s at i o n can be m axi m i s ed by creat i ng s i t uat i o ns where s m al l gro up s can wo rk o r p l ay t o get her . Adult support to develop and maintain friendships can be beneficial. When hosting a child withND at home, parents or carers can help to facilitate communication and to adapt the environment Awareness assemblies organised by a QTVI may be helpful to educate peers how tointeract more effectively with a child with ND Flexible grouping arrangements and buddy schemes may help to facilitate social interactions 17 16
Specialist equipment used by children with Norrie Disease [It is important to] get the child braille-trained as early as possible and using the BrailleNote touch. In our case this has enabled the child to keep up with learning at the same pace as his peers so without the braille knowledege it s very hard for the child to move at a similar academic pace as hispeers Specialist equipment is often used by children and young people with ND to facilitate their education at school and at home, and may include: Parent of a child withND Refreshable Braille displays I ns t al l ed o n des kt o p o r l ap t o pco m p ut ers Hearing aids and/or a radio aid/assistive listening device Wo rn by chi l dr en wi t h ND who exp eri ence heari ng l o s s A Perkins Brailler The bas i cwri t i ng t o o l fo r a bl i nd chi l d Electronic Braille notetakers S uch as t he Brai l l eNo t e To uch o r Brai l l e S ens e Po l ari s ( m o dern t abl et i nt erfaces t hat can i m p r o ve co m m uni cat i o n) A tactile timetable Faci l i t at es i ndep endent wo rki ng Zyfuse Heater Specialist IT equipment S uch as s p eech o ut p ut p ro gram m es fo rco m p ut ers ,( m ay be reco m m ended by t he QTVI ) A n exam p l e o fequi p m ent us ed t o p ro duce r ai s ed di agram s A longcane A co m m o n ai d us ed by chi l dr enwi t h vi s i o n i m p ai rm ent 19 18
AGE-SPECIFICGUIDANCE Exploring the Environment M o vem ent s ho ul d be enco uraged t o al l o w a chi l d t o exp l o re o bj ect s wi t h t hei r m o ut h and feet , as wel l as enco uragi ng t he us e o f t hei rhands I nfant s gai n a wi de vari et y o f i nfo rm at i o n t hro ugh t hei r m o ut hs befo ret hey s t art t o exp l o re wi t h t hei rhands Chi l dr en wi t h ND wi l l need t o m o ve fro m us i ng t he who l e p al m t o finger p ads i n o rder t o det erm i ne s hap e p at t ern ( t hes e are t he p rerequi s i t es o f brai l l e, s ho ul d t hi s beco m e t hei r p r eferr ed m edi um ) A Perki ns Brai l l er can be us ed t o p ro duce s cri bbl e i n brai l l e Pre-school/nursery (ages 3 5) A t nurs ery a chi l d i s p r ep ared fo r t he t rans i t i o n t o s cho o l l i fe. Teachers s ho ul d ai m t o devel o p a chi l d s s ens e o f t i m e and s p ace, wi t h cl ear l y i dent i fiabl e s ens o ry cues t hro ugho ut t he day. SensoryInput S ens o ry r es o ur ce bo xes o r t reas ure bas ket s co nt ai ni ng i t em s o f vari o us wei ght , s i ze, t ext ure, co l o ur , t as t e, t em p erat ure, and s o und can be us ed t o s t i m ul at e o ne o r m o re o f t he five s ens es Thi s can hel p a chi l d l earn by exp l o rat i o n and exp eri ence, and devel o p s a chi l d s s t rengt h, dext eri t y and s ens i t i vi t y I t wi l l al s o enco urage curi o s i t y and t o l er ance t o war ds new exp eri ences Repetitive and self-stimulatory behaviours Earl y i nt ervent i o n t o r educe behavi o urs , s uch as ro cki ng, eye p o ki ng, hand flap p i ng and a l o w hangi ng head i s i m p o rt ant H avi ng o p en co nvers at i o ns abo ut a chi l d s bl i ndi s m s i s enco uraged and can hel p t o s up p o rt a chi l d wi t h ND. Thi s co ul d i nvo l ve t al ki ng t o t he chi l d abo ut why t hey are do i ng t hes e behavi o urs and di s cus s i ng t he p o t ent i al i m p act , fo r exam p l e ho w t hei r bl i ndi s m s m ay m ake s o ci al i nt egrat i o n chal l engi ng I f ap p ro p ri at e, a habi t co ul d be rep l aced by a l es s harm ful habi t , s uch as t he us e o f fiddl e t o ys , s t res s bal l s o r p hys i calexer ci s e A chi l d wi t h ND m ay need p r o m p t i ng t o s t o p cer t ai n behavi o urs ( e. g. t o rai s e t hei r head o r s t o pro cki ng) Phys i o t her ap y o r r egul ar exer ci s e m ay hel p t o s t r engt hen co r e m us cl es t o s up p o rt a chi l d s head 21 20
Primary school (ages 511) Positioning Pri m ary s cho o l i s a chi l d s firs t exp eri ence o f s cho o l l i fe. Thi s can be a chal l engi ng t i m e fo r m any chi l dr en wi t h ND, as t hey begi n t o unders t and t hat t hey are di fferent fro m t hei rp eers . Ens ure t hat t he chi l d i s i n t he m o s t s ui t abl e p o s i t i o n t o us e t hei rhands , whet her s eat ed, s t andi ng o r l yi ng do wn Co ns i der t he p l acem ent o f o bj ect s ( o bj ect s whi ch are di ffi cul t t o handl e co ul d be hung do wn aro und a chi l d fo r t hem t o t o uch and l i s t en t o ) Educational Support Educational Support A l l o w chi l dr en wi t h ND t o exp l o re new t hi ngs at a s ui t abl e p ace Faci l i t at e i nt eract i o ns wi t h o t her chi l dr en i n t he cl as s ro o m Curri cul um m at eri al s s ho ul d be cho s en t hat enco urage t he devel o p m ent o f dext eri t y and fine finger co nt ro l , s uch as t act i l e bo o ks The as s es s m ent o f a chi l d s devel o p m ent ( s uch as t he earl y s t ages o fp ret end p l ay) s ho ul d be adap t ed, wi t h an em p has i s o n s o unds o r wo rds , rat her t han o n t he m ani p ul at i o n o fo bj ect s Chi l dr en wi t h ND s ho ul d al s o be enco ur aged t o l ear n s ki l l s fo r p ers o nal care, s uch as was hi ng, dres s i ng and t o i l et i ng i ndep endent l y A QTVI wi l l p ro vi de m o r e i nfo rm at i o n t o i ndi vi dual s cho o l s t o s up p o rtacces s t o l earni ng fo r p up i l s wi t h ND 1: 1 s up p o rt i s es p eci al l y i m p o rt ant at t hi sage Educat i o nal m at eri al s s ho ul d be t ai l o red t o t he i ndi vi dual chi l d ( e. g. t act i l e nurs ery rhym e p ro m p t cards and t act i l e bo o ks ) A chi l d s co ncent rat i o n can be i m p r o ved by reduci ng di s t ract i o ns , s uch as s o und fro m t al ki ng and m o vem ent Pro vi de o p p o rt uni t i es fo r a chi l d t o p l ay i n a qui et area away fro m o t her chi l dr en att i m es Safety Educational Environment Ens ure t hat chi l dr en are ap p ro p ri at el y s up ervi s ed A ri s k as s es s m ent o f t he envi ro nm ent s ho ul d be p erfo rm ed; s t aff s ho ul d be o n t he l o o ko ut fo r p o t ent i al hazards Pay at t ent i o n t o o bj ect s s cat t ered o n t he flo o r , whi ch can be t ri phazards Do o rs can t rap finger s . Tr y and keep do o rs ei t her wedged ful l y o p en o r firm l y s hut I t can be hel p ful t o define and l i m i t t he p l ay s p ace aro und t he chi l d t o creat e a den o r s ecur e fam i l i ar bas e fo r p l ay O p t i m i s e t he educat i o nal envi ro nm ent by p ro vi di ng wo rk s p aces ( i ncl udi ng a dedi cat ed area fo r a chi l d s Perki ns Brai l l er ) and co ns i deri ng s eat i ng arrangem ent s A vo i d rearrangi ng a cl as s ro o m t o r educe t he chance t hat a chi l d wi t h ND wi l l beco m e di s o ri ent at ed Po s i t i o n t he chi l d away fr o m s o urces o f no i s e ( do o rs and wi ndo ws co ul d be cl o s ed t o r educe no i s e) M i ni m i s e t he di s t ance bet ween t he t eacherand t he chi l d t o faci l i t at e co m m uni cat i o n Fabricscan be usedto improveroom acoustics Don t let children or staff mother the child Parent of a child with ND 23 22
Secondary school (ages 1116) Signs that a child or young person may be experiencing hearing loss include: A t s eco ndary s cho o l a chi l d wi t h ND m ay r equi re adj us t m ent s t o t he del i very o f t he nat i o nal curri cul um t o ens ure t hat t hei r educat i o n i s o p t i m i s ed and adap t ed t o t hei r s p eci fic l earni ng needs . The QTVI wi l l p ro vi de m o r e i nfo rm at i o n t o i ndi vi dual s cho o l s t o s up p o rt acces s t o l earni ng fo r p up i l s wi t h ND. I t can al s o be hel p ful fo r s cho o l s t o di s cus s wi t h p arent s ho w t o m o s t effect i vel y ap p ro ach and m anage t hes e educat i o nal and p as t o ral care chal l enges . Do es no t res p o nd when cal l ed Co ns t ant l y s ays what ? o r as ks fo r s p eech t o be rep eat ed Do es no t fo l l o w i ns t ruct i o ns s t rai ght away O ft en m i s unders t ands o r i gno res i ns t ruct i o ns M akes l i t t l e o r no co nt ri but i o n t o gro up act i vi t i es o rdi s cus s i o ns Co m p l ai ns abo ut no t bei ng abl e t o hear Ti r eseas i l y Tal ks l o uder o r s o ft er t han exp ect ed Beco m es eas i l y frus t rat ed A p p earsi nat t ent i ve HearingLoss H eari ng l o s s m ay s t art duri ng s eco ndary s cho o l ( heal t h check- up s m ay beco m e m o re frequent ) I f t here i s any caus e fo r co ncern, t he s cho o l s ho ul d advi s e t he p arent o r l egal guardi an o f a chi l d wi t h ND t o s eek m edi cal advi ce fo r r efer ral t o a l o cal audi o l o gy cl i ni c fo r a heari ng t es t A chi l d wi t h ND and heari ng l o s s m ay benefit fr o m t he us e o f heari ng ai dso r as s i s t i ve l i s t eni ng devi ces A s m i l d heari ng l o s s m ay be di ffi cul t t o i dent i fy, i t i s i m p o rt ant t hatt eachers are abl e t o reco gni s e t he s i gns o f heari ng l o s s i n a chi l d The s i gns o f heari ng l o s s can fluct uat e, m eani ng t hat a chi l d wi t h ND m ay di s p l ay t hes e o n s o m e days but no to t hers The o ns et o f heari ng l o s s m ay have an em o t i o nal i m p act o n a chi l d and t hei r fam i l y, as s o und i s o ft en an i m p o rt ant as p ect o f bl i nd chi l d sl i fe Co uns el l i ng s ervi ces can p ro vi de p s ycho l o gi cal s up p o rt fo r heari ng l o s s t o a chi l d wi t h ND and t hei rfam i l y A Qual i fied Teacher o f t he Deaf, fro m t he l o cal aut ho ri t y s p eci al i s t educat i o n s ervi ce fo r deaf chi l dr en, i s an i m p o rt ant s o urce o f advi ce and s up p o rt Always allow time for the child to do things as independently as possible; this takes much more time than sighted children but it is the key to independence Parent of a child withND 24 25
Sixth form/college (ages 1618) Transition to AdultLife A s yo ung p eo p l e wi t h ND ap p ro ach adul t ho o d duri ng s i xt h fo rm and co l l ege, t here s ho ul d be a s t ro ng fo cus o n devel o p i ng s ki l l s fo r i ndep endentl i vi ng. A vai l abl e fut ure hel p and s up p o rt s ho ul d be s i gnp o s t ed t o yo ung p eo p l e wi t h ND S i xt h fo rm s o r co l l eges s ho ul d s eek p art ners hi p s wi t h em p l o ym ent s ervi ces , bus i nes s es , ho us i ng agenci es , di s abi l i t y o rgani s at i o ns and ext ra- curri cul ar gro up s O p t i o ns fo r i ndep endent l i vi ng s ho ul d be exp l o red, i ncl udi ng s up p o r t ed l i vi ng arrangem ent s , ho us i ng benefit s and s o ci al care s up p o rt A s fut ure em p l o ym ent can be a daunt i ng s t ep fo r a yo ung p ers o n wi t hs i ght l o s s o r heari ng l o s s , ext ra s up p o rt s ho ul d be m ade avai l abl e S i xt h fo rm so rco l l egescan p ro vi de careeradvi ce and hi ghl i ghtdi ffer ent em p l o ym ento p t i o ns ,s uch ass up p o r t ed i nt erns hi p s ,ap p rent i ces hi p sand t rai nees hi p s S cho o l s can p ro m p t yo ung p eo p l e wi t h ND and t hei r fam i l i es t o di s cus s t he t rans i t i o n t o adul t heal t h s ervi ces and adul t s o ci al care wi t h a heal t hcare p ro fes s i o nal Independence The need fo r devel o p i ng i ndep endence s ho ul d be careful l y bal anced wi t h t he need fo r s up p o rt A yo ung p ers o ns vi ews and cho i ces s ho ul d be el i ci t ed and res p ect ed Teachers s ho ul d s et hi gh exp ect at i o ns t o p us h yo ung p eo p l e t o wards achi evi ng t hei r p o t ent i al Teachers s ho ul d be m i ndful o f t he i m p o rt ance o f as ki ng a yo ung p ers o n wi t h ND i f hel p i s needed befo re p ro vi di ng hel p A ct i vi t i es and l earni ng p ro gram m es s ho ul d be des i gned t o fo s t er s t ro ng at t i t udes o f s el f- rel i ance, s el f- bel i ef and co ur age Vi t al s ki l l s s ho ul d be devel o p ed, s uch as p rep ari ng fo o d and co o ki ng Hearing Loss A s heari ng l o s s i n ND t ends t o wo rs en o ver t i m e, s t rat egi es s ho ul d be p ut i n p l ace t o m eet a yo ung p ers o n s dynam i c m ul t i - s ens o ry requi rem ent s : a regul ar r evi ew by a Qual i fied Teacher o f t he Deaf o r S ENCo can faci l i t at e t hi s 26 27
THE NORRIE DISEASEFOUNDATION USEFUL CONTACTS ANDRESOURCES The No rri e Di s eas e Fo undat i o n i s a UK - bas ed chari t y who p ro m o t es p i o neeri ng res earch i nt o ND and p ro vi des vi t al s up p o rt t o fam i l i es . Lo cal o p ht hal m o l o gy s ervi ces Lo cal audi o l o gy s ervi ces Ro yal Nat i o nal I ns t i t ut e o f Bl i nd Peo p l e ( RNI B) : www. rni b. o rg. uk S ENS E ( a chari t y s up p o rt i ng everyo ne who i s deaf and bl i nd) : www. s ens e. o rg. uk/get - s up p o rt /i nfo rm at i o n- and-advi ce/s up p o rt - fo r- chi l dr en S END I nfo rm at i o n, A dvi ce and S up p o rt S ervi ce ( S ENDI A S S ) : www. ki ds . o rg. uk/s endi as s The No rri e Di s eas e Fo undat i o n: www. no rri edi s eas e. o rg. uk UCL Great O rm o nd S t r eet I ns t i t ut e o f Chi l d H eal t h ( I CH ) : www. ucl . ac. uk/chi l d- heal t h Great O rm o nd S t reet H o s p i t al ( GO S H ) : www. go s h. nhs . uk The ND co m m uni t y i n t he UK can p ro vi de i nfo rm at i o n and s up p o rt fo rchi l dr en wi t h ND and t hei rfam i l i es . Furt her i nfo rm at i o n can be fo und at : www.norriedisease.org.uk The ND co m m uni t y can al s o be reached o n s o ci al m edi a at : https://www.facebook.com/NorrieDiseaseUK 28 29
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Thi s educat i o nal l eaflet was devel o p ed fo r t he No rri e Di s eas e Fo undat i o n o n a p r o bo no bas i s by Co s t el l o M edi cal
