a guide for educators booklet · a diagnosis of neurofibromatosis type 1 (nf1) in a child raises...

NF1A Guide for Educators

A Guide For Educators BOOKLET 01/05/2013 12:08

Introduction 4

About Neurofibromatosis 5

The Cause of NF1 5

Diagnosing NF1 6

Medical Complications of NF1 6

Physical Activities for Children with NF1 8

Cognitive & Behavioural Consequences 8

Intelligence & NF1 9

NF1 – Associated Learning Difficulties 9

Behavioural Problems 10

Psychosocial Concerns 11

Mainstream Classes or Special Education? 11

Finding Help 12

Communication Among Parents, Children & Educators 12

Contents

Disclaimer Every care has been taken to ensure the accuracy of the information contained in this brochure.The NF association cannot however accept responsibility for errors or omissions, but where suchare brought to our attention the information will be amended accordingly. The author andpublisher accept no responsibility for any loss, damage, injury or inconvenience sustained or causedas a result of information supplied in this brochure. It is recommended that anyone who hasconcerns about Neurofibromatosis first speak to their doctor.

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Neurofibromatosis – A Guide for Educators

Professor GreenDirector, Centre of Medical Genetics

“I am delighted to support and endorse the newinformation sheets for people with Neurofibromatosis1 and their families. The information will be of greathelp to the many families in Ireland with NF1, andwill help those families to understand better themany ways in which Neurofibromatosis 1 can affectpeople. The National Centre for Medical Genetics isdelighted to be associated with the NeurofibromatosisAssociation of Ireland, and that the NeurofibromatosisAssociation of Ireland has funded a geneticcounsellor to run a specialised NF clinic in the NCMG.The NCMG has a wealth of experience withNeurofibromatosis and sees many families with thecondition throughout Ireland. The NCMG holdsgenetics clinics in Dublin, Cork, Limerick and Galway,and is happy to see families with NF1, with a referralfrom their own doctor.

Prof. Andrew Green

NEUROFIBROMATOSIS CLINIC

The Centre for Medical GeneticsOur Lady’s Children’s Hospital, Crumlin, Dublin 12Genetic Counsellor Helpline: + 353 1 428 2858

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NF Ireland – A Voice for NF Patients and Their Families

INTRODUCTION

A diagnosis of Neurofibromatosis type 1 (NF1) in achild raises many important issues for care, whetherin the doctor’s office, at home or in school. Childrenwith NF1 can enjoy good health and academicsuccess, but many have special needs – especially in aschool environment. Proper attention to these needscan dramatically increase the chances that childrenwith NF1 will do well, both in school and in later life.

Classroom and special education teachers, schoolpsychologists and counsellors, occupational therapists,speech therapists, and school nurses can make asignificant difference in the lives of children withNF1 by gaining knowledge about the disorder andproviding early intervention when and if needed.

We thank you for your concern and interest inreading this brochure. This is a time of excitingprogress in our understanding of NF1.

ACKNOWLEDGEMENT

The Neurofibromatosis Association of Ireland wish toacknowledge the assistance received in the preparationof this booklet from Professor Andrew Green,Director, Centre of Medical Genetics, our GeneticCounsellor, also the Children’s Tumour Foundation,New York, and the many research scientists involvedin the publication – names listed separately.

The Neurofibromatosis Association of Ireland,Carmichael Centre, North Brunswick Street, Dublin 7.Telephone: +353 1 872 6338 Web: www.nfaireland.ie Email: [email protected]

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ABOUT NEUROFIBROMATOSIS

Neurofibromatosis is a term that encompasses threedistinct disorders: NF Type 1 (NF1), NF Type 2 (NF2)and Schwannomatosis. All are genetic conditions thatcause tumours to form on nerves. This brochure dealsexclusively with NF1, which is commonly associatedwith learning difficulties in addition to tumours.

NF1 strikes one in every 3,000 births and can lead toa wide range of medical problems. The features ofNF1 vary greatly from one person to the next. Somechildren are quite severely affected, while most haveconsiderably milder cases. Although many childrenwith NF1 generally enjoy good health, the disordercan lead to malignancy, loss of vision, bone andskeletal defects, disfigurement, cardiovascularproblems and other serious complications.

Research indicates that approximately 50-60% of allchildren with NF1 have some form of learningdifficulty. Many will require special educationservices for learning difficulties, speech problems,motor deficits, or psychosocial problems. There isalso a higher incidence of attention deficit disorderamong children with NF1 compared to the generalpopulation. In addition to the potential for cognitivedifficulties, some children may have visiblemanifestations of NF1 that draw attention and causeadded stress for them in social situations.

THE CAUSE OF NF1

NF1 is caused by a change, or mutation, in thestructure of a gene. Because of this, a child caninherit NF1 from a parent who has the disorder.About half of the time, however, a child with NF1 isthe only person in the family who has the disorder.

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In such instances, the NF1 gene change occurred asthe result of “spontaneous mutation” – a randomerror in the process of copying genetic information.

NF1 is not the consequence of drug, alcohol or X-rayexposure, or any other factor under the control ofthe child’s parents. NF1 is not contagious. No amountof contact between an affected and unaffected childcan transmit the condition.

DIAGNOSING NF1

NF1 is generally diagnosed by a geneticist orpaediatric neurologist using defined clinical criteria.A diagnosis of NF1 is often made by the presence ofsix or more pigmented spots on the skin (called café-au-lait patches) in combination with other hallmarkfeatures of the disorder.

A separate brochure (“About Neurofibromatosis1”)is available from NFA Ireland providing more specificinformation on the diagnosis and management of NF1.

MEDICAL COMPLICATIONS OF NF1

Generally, it is the job of medical professionals, notschool personnel, to monitor the health of childrenwith NF1. However, it is also helpful for educators tobe aware of some of the potential complications andmanifestations of NF1 that can affect children.

Tumours: Because NF1 is associated with tumourformation, one of the most feared complications iscancer. Fortunately, the most common tumoursassociated with NF1 (called Neurofibromas) typicallyare not malignant. They may, however, requiresurgery to allay the chance that serious complicationswill develop. It is important to note that any suddengrowth or pain in a neurofibroma can be a sign of

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malignancy onset and should be brought to theattention of a medical specialist.

Some children with NF1 develop brain tumours. The most common of these are optic gliomas, whichinvolve the optic nerve that controls vision. Typically,these are asymptomatic and do not require treatment,although they can cause problems with vision or earlyonset of puberty. In such cases, effective treatmentsare available. Other types of brain tumours are rarein children with NF1. These may be preceded byheadaches, seizures, or changes in behaviour – all ofwhich should be medically evaluated as soon aspossible after onset. Most such changes are notindications of brain tumour, but medical evaluationis important.

Migraine: Some children with NF1 have a migrainesyndrome that can include headache, abdominalpain, nausea, vomiting, malaise, fatigue or dizziness.Headache may be a minor feature, or may not bepresent at all. These children may miss many days ofschool or be sent frequently to the school nurse. A medical evaluation should be initiated if thesesymptoms are present, in order to rule out, forexample, that there is a brain tumour. The goodnews is that children with NF1 can responddramatically to appropriate medications forprevention and treatment of migraine.

Scoliosis: Children with NF1 are at higher thanaverage risk for scoliosis (abnormal curvature of thespine) which can appear at a much younger age thanis typical in the general population and can bedetected by regular screening. Early management iscritical to preventing serious complications.

Bone defects: Abnormal bone development occurs in approximately 14% of individuals with NF1. Most bone defects of NF1 will be evident at birth orshortly thereafter (some, such as vertebral defects,

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can occur later). They can occur in almost any bone,but are seen most often in the skull and limbs.

High blood pressure: Children with NF1 are also athigher than average risk for high blood pressure,and again this can appear at a much younger agethan in the general population. This can be detectedby regular screening and appropriately managed.

Speech and motor deficits: These are often associatedwith NF1. Children exhibiting these problems tend tobenefit greatly from early intervention throughspeech and occupational therapy.

PHYSICAL ACTIVITIES FOR CHILDRENWITH NF1

In general, children with NF1 are not unusually fragileand do not require special protection. They arecapable of participation in a full range of normalactivities. The only exception is for those who havespecific complications, for example those relating tobone defects, scoliosis or tumours that may place themat risk for injury. In these cases, the child’s physicianwill point out any restrictions on physical activity.

COGNITIVE & BEHAVIORALCONSEQUENCES OF NF1

One of the most important complications for schoolpersonnel to be aware of in children with NF1 is toensure early recognition of cognitive or behaviouralproblems. It is important to remember that at leasthalf of all children with NF1 have some degree ofcognitive or behavioural difficulties. The possibilityof such problems should be kept in mind for anychild with NF1.

It is believed that cognitive and behavioural problemsmay be caused by changes in the structure of the

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brain due to NF1. No specific profile of cognitive orbehavioural impairment seems to be unique to NF1.Rather, problems overlap with those seen in thegeneral population – and children with NF1 respondto the same interventions as are used for childrenwith cognitive or behavioural impairment who donot have NF1.

However, it is equally critical to recognise that roughlyhalf of all children with NF1 have no cognitive orbehavioural complications. There can be a danger of“over-diagnosing or over-analysing” the conditionand assuming that such problems will be present in achild with NF1. For this and many other reasons it isimportant for educators and parents to worktogether in evaluating whether a problem exists.

INTELLIGENCE & NF1

As in the general population, intelligence in childrenwith NF1 spans the entire range, from below averageto above average. Studies have shown a tendency forIQ scores in children with NF1 to be “shifted to theleft” (i.e. lowered) to the mid-80s. However, any oneindividual may score below or above this.

There does not seem to be consistent discrepancybetween verbal and performance IQ in NF1.Severe problems (classifiable as mental retardation)are rare and these are generally obvious in the firstfew years of life.

NF1 – ASSOCIATED LEARNINGDIFFICULTIES

A learning difficulty is defined as a problem with aspecific cognitive function that is necessary forlearning in individuals with average or even aboveaverage intelligence. As in the general population,there is a wide range in the character and severity of

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learning difficulties that can be seen in children withNF1 – including both verbal and non-verbal difficulties.

The learning difficulties seen in NF1 can includedysfunction in visual or auditory perception (not tobe confused with visual or auditory acuity);information integration (such as sequencing,abstraction or organisation); memory; language;gross motor, fine motor, or oral motor skills (causingclumsiness, poor handwriting, or poor articulation);and social skills or behaviour (including misperceptionof social cues, attention deficit, or hyperactivity).They may present problems in reading, spelling,maths, spatial ability, neatness, test taking, speech,ability to make friends, or many other functions.

Children with NF1-associated learning difficulties canbenefit greatly from evaluating areas of strengthand weakness, and from an individualised educationprogram tailored to the unique needs of the child.With early and appropriate intervention, thesechildren can indeed succeed in school.

A separate brochure (“NF1: About LearningDifficulties”) is available from NFA Ireland whichoutlines specific learning difficulties and practicalsuggestions for classroom modifications that maybe helpful.

BEHAVIOURAL PROBLEMS

Behavioural problems associated with NF1 includeattention deficit/hyperactivity disorder (ADHD), asoccurs in the general population. Although thisproblem is a direct result of this complex geneticcondition, children with NF1 who have behaviouralproblems respond to the same interventions as anychild: individualised attention, behaviouralmodification and, in some cases, medication.

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PSYCHOSOCIAL CONCERNS

Children with learning difficulties often findthemselves bullied by fellow students. The raredisfiguring complications of NF1 in childhood areoften subject to questions or teasing fromclassmates, requiring a high level of sensitivity toboth the child with NF1 and the other students. Thisbehaviour often results from ignorance among theirpeer group and can be counteracted by providingaccurate, age-appropriate information.

Children with NF1 often suffer form social isolation,poor self-esteem, anxiety or depression. For thosecoping with the combined burden of medical,learning and social issues associated with NF1, thetypical school day can be psychologically exhausting.

MAINSTREAM CLASSES OR SPECIAL EDUCATION?

Many children with NF1 benefit from specialeducation services and this should be sought as earlyas possible. Children with learning difficultiesresulting from NF1 may learn academic skills at aslower rate than their peers; but research informs usthat they will, in time, learn the necessary material –just as their classmates do. They often struggle withrote foundation skills despite having adequatecomprehension abilities. Educators and parentsshould maintain high expectations for the child, butnot demand mastery to the point of frustration.Children enrolled in special education classroomsshould be evaluated regularly to assess whetherspecial services continue to be needed, or if the childis increasingly capable of succeeding in mainstreameducation classes.

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FINDING HELP

Some children with learning deficits may not meeteligibility criteria for receiving special services basedsolely on evaluation within the school system.However, children with NF1 are eligible for specialeducation as verified by a physician. Speech andoccupational therapy may be provided as if needed.Assistive technology services, such as access to laptopcomputers if handwriting is a problem, are alsoavailable and helpful for many children.

COMMUNICATION AMONG PARENTS,CHILDREN & EDUCATORS

Because of the variability of features in NF1, somechildren are obviously affected by the disorderwhereas others are not. It is important for educatorsto discuss with a child’s parents what the child knowsabout his or her condition. Many parents wait to telltheir child about NF until they feel the child is ableto handle the information emotionally. How muchand what to tell a child must be individualised to hisor her particular complications, age, maturity, andlevel of understanding.

Parents often have mixed feelings about sharingtheir child’s diagnosis of NF1 with school personnel.Some parents fear that a child known to have NF1will be assumed to have medical problems orlearning difficulties, even if he or she does not. Theyworry that an assumption of learning difficulties maycreate a “self-fulfilling prophesy” that can lower ateacher’s expectations of the child – and, in turn,lower a child’s self-esteem and performance – evenwhen no learning problems are present. However,for anyone involved with a child who has NF1,knowledge typically translates to better care.

Thank you for taking the time to learn about thiscommon, yet under-recognised neurological disorder.

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CHILDREN’S TUMOR FOUNDATION

The American Children’s Tumor Foundation supportspersons with NF and their families by providingthorough and accurate information. It also offers aYouthCONNECT program which includes an onlineyouth chatroom. www.ctf.org

Written by Bruce R. Korf, MD, Ph.D. University ofAlabama at Birmingham, School of Medicine.Approved by the Clinical Care Advisory Board of theChildren’s Tumor Foundation: Jan M. Friedman, MD, Ph.D. University of British Columbia, David H.Gutmann, MD, Ph.D., Co-Chair, Washington UniversitySchool of Medicine. Robert Miyamoto, ConsumerRepresentative, University of Washington, Scott R.Plotkin, MD, Ph.D. Harvard Medical School /Massachusetts General Hospital, Tena Rosser, MDChildren’s Hospital Los Angeles / University ofSouthern California, Elizabeth K. Schorry, MDCincinnati Children’s Hospita l William H. Slattery III,MD House Ear Institute, David Viskochil, MD, Ph.D.,Co-Chair University of Utah with Kim Hunter-Schaedle, Ph.D. Chief Scientific Officer, Children’sTumor Foundation © 2009 Children’s TumorFoundation. All rights reserved.

NF1 BROCHURES • OVERVIEW OF NEUROFIBROMATOSIS TYPE 1 • A GUIDE FOR EDUCATORS• LEARNING & COGNITIVE DIFFICULTIES • NEUROFIBROMATOSIS TYPE 1 FOR TEENS• THE CHILD WITH NEUROFIBROMATOSIS TYPE 1 • TALKING TO YOUR CHILD • READERS 100 QUESTIONS ANSWERED

LEAFLETS • NF1 REVIEW CHECKLIST FOR CHILDREN & ADULTS • NEUROFIBROMATOSIS – A BRIEF INTRODUCTION • SCHWANNOMATOSIS • CONTACT FORM

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CLINICAL GUIDELINES FOR MANAGING NF1 • FOR ADULTS • FOR HEALTH PROFESSIONALS

NEUROFIBROMATOSIS TYPE 2 BROCHURES• FOR FAMILIES• FOR HEALTH PROFESSIONALS

HANDBOOK• NF IRELAND HANDBOOK

Neurofibromatosis is a Little Known GeneticCondition and Can Manifest Itself in a WholeLot of Different WaysThe care of persons with NF is made complex by thewide range of expression of the disorder. It is difficultto predict the specific problems that will occur in aparticular individual. Diagnosis is made if an individualhas two or more of the following features.

The diagnosis is based on the following clinical criteria:1. Six or more (café au lait) coffee coloured patches

sized 5mm or over in pubertal individuals andover 15mm in size in post pubertal individuals.

2. Freckling under the arm or in the groin area.3. Two or more Neurofibromas of any type (growth

of tumours on nerve tissue anywhere on the body)usually first seen on the skin.

4. Plexiform Neurofibromas – large bundle of nervesare thickened and appear as a soft tissue massunder the skin, these growths often large, canchange the normal shape of the body.

5. Optic Glioma – Thickening of the optic nerve.6. Lisch Nodules – clumps of pigment cells that occur

on the iris of the eye.7. Orthopaedic problems include scoliosis (curvature

of the spine) abnormal bone development, suchas overgrowth in long bones causing bowing anddeformity that result in fractures, which fail to heal.

8. First-degree relative with NF e.g. parent, sibling,offspring.

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9. Learning Difficulties. As many as 50% of childrenwith NF have short attention span, appear clumsyand uncoordinated. Problems particularly witharithmetic and spelling are common.

Neurofibromatosis Type 2Another rarer type of Neurofibromatosis and distinctin its clinical feature is NF2. The gene for NF2 islocated on chromosome 22, Features include:Vestibular schwannomas (tumour on hearing nerve).Schwannoma (type of tumour of the substance thatcovers nerve fibres). Meningomas (tumour of thecovering of the brain). Cataract.

NF1Digestive tractneurofibromas – maycause pain, vomitingchronic constipation or diarrhoea

NF2cataracts

NF2bilateral vestibular

schwannomas(NF2)

(hearing andbalancing)

NF2spinal cord tumours

NF1spinal cord tumoursscoliosis of the spineabnormal curvature

NF1high blood

pressure

NF1freckling whereskin meets skin

(armpits, groins,under the breasts)

NF2brain tumors

NF1learning difficulties

NF1/2skin:neurofibromascafé-au-laitpatches(similar todarkbirthmarks)– may occuranywhere

NF1Optic glioma (tumour ofthe optic nerve)Lisch nodules (clumps ofpigment cells that occuron the iris of the eye)

NF1pseudarthrosis

(false joints)

How NF can affect the body

Phone: + 353 1 8726338E-Mail: [email protected]: http//www.nfaireland.ie

The Neurofibromatosis Association of Ireland (NF Ireland) Registered Charity CHY6657 &

Company Limited by Guarantee Ref. No. 299875Telephone: + 353 1 872 6338

Genetic Counsellor Helpline: + 353 1 428 2858

a guide for educators booklet · a diagnosis of neurofibromatosis type 1 (nf1) in a child raises...

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