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1. Valerie A. Harpin Susan M. Gentle CHAPTER
Neurodevelopmental 29
disability
Learning outcomes 27
Introduction 27
Learning disability 27
Developmental coordination disorder 33
The cerebral palsies 36
Communication and its disorders 40
Autistic spectrum disorders 44
LEARNING OUTCOMES
By the end of this chapter you should:
● Understand the causes of learning disability, attention deficit/hyperactivity disorder
(ADHD), cerebral palsy and communication disorders
● Understand the principles of management of learning disability, ADHD, cerebral palsy
and the different types of language impairment and communication disorder
● Understand the concept of the autistic spectrum and what it includes.
MODULE S IX
You should also take the opportunity to ensure that:
● You can make an initial assessment of a child with learning difficulties, ADHD, delayed
walking and cerebral palsy, and delayed language development
● You are aware of the different ways of assessing of language impairment and
communication disorder
● You are aware of appropriate management.
Introduction Learning disability
The prevalence of physical and multiple disabilities in
Problem-orientated topic:
children is estimated to be approximately 10–20 per
1000. Chapter 18 describes the concepts and causes of the slow learning child ●●●●●
disability, and emphasizes that its management requires
a multidisciplinary approach, often focused on a Child Thomas is a 3-year-old boy who is referred
Development Centre. This chapter concentrates on the because of suspected developmental delay.
causes, investigation and management of common His vision and hearing are normal. There
specific neurodisabilities of childhood. Although each is no family history of learning disability,
disability is considered separately, multiple disabilities fits or serious illness. His parents are not
in the same child are common. Continued overleaf
27
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2. related. Thomas was born at term weighing BOX 29.1 Definitions in learning disability
3.5 kg, following a normal pregnancy. He had
In the UK, the term ‘learning disability’ is currently
no neonatal problems. There is no relevant used in preference to ‘mental subnormality’ or
29 past medical history and no evidence of fits. ‘mental retardation’, whereas in the USA the
He smiled at 8 weeks, sat by 8 months and term ‘learning disability’ means ‘specific learning
walked at 15 months. He has had no feeding disability’ and ‘mental retardation’ is still the term
Neurodevelopmental disability
difficulties. His early social interaction was used to denote ‘general learning difficulties’.
normal. On examination he is not dysmorphic.
His head circumference is on the 70% centile. Table 29.1 UK definitions and incidence
He has no neurocutaneous lesions; his gait, Definition IQ Incidence Cause
(per 1000) identified*
fundi and deep-tendon reflexes are normal,
Mild/moderate 50–70 5 68%
and his plantar reflexes are down-going. Arm
Severe < 50 3.8 96%
and leg tone is normal and symmetrical. He
shows good eye contact, early turn-taking Severe 9.3
(developing
and uses his index finger to point for a drink countries)
or food. The only word he uses is ‘Mum’, with * This is higher, however, than in routine clinical practice (Whiting K
some other early babble. 2001 Investigating the child with learning difficulty. Current Paediatrics
11:240–247).
Q1. What is the definition of learning disability?
Q2. How do you make the diagnosis of learning We will use the abbreviations ‘SLD’ for severe learning
disability? disability and ‘MLD’ for mild/moderate learning
disability.
Q3. What are the pros and cons of investigating a
child with a learning disability?
Some psychometric tests
Q4. What investigations would you perform, if any?
The following two tests are commonly used by paedia-
Q5. How would you manage this child and family? tricians. Both require training and special equipment:
• Griffiths. This has been standardized on 0–8-year-old
British children but relies on parental reporting; many
items are timed. It has recently been updated.
Q1. What is the definition of learning • Bayley II. This scale (age range 0–42 months) is
used to assess developmental age and has been
disability?
standardized on American children.
A child or young person has a learning disability if
he or she has ‘a greater difficulty in learning than the
majority of children of the same age’ (Box 29.1). Q2. How do you make the diagnosis of
The International Statistical Classification of Diseases– learning disability? (Box 29.2)
10th revision (ICD-10) defines it as ‘a condition of arrested Mild/moderate learning disability
or incomplete development of the mind which is especially While children with SLD often have associated problems
characterized by impairment of skills manifested during such as cerebral palsy, those with MLD often have no
the developmental period contributing to the overall other problems. Many will be the tail-end of the normal
level of intelligence, i.e. cognitive, motor and social distribution; others will have learning difficulties as
abilities’. This is not a helpful definition for parents. a result of environmental factors (lack of early oppor-
For research and study it is sometimes necessary to have tunities or iron deficiency) and be functioning below
a definition that can be measured. Average intelligence their genetic potential; some will have an identifiable
quotient (IQ) is 100, with a standard deviation (SD) of remediable cause such as vision or hearing problems;
15. Learning disability may then be defined as > 2 SD some will have an intrinsic problem such as neuro-
below the mean or the ICD-10 definitions: fibromatosis or a chromosome abnormality.
• Mild IQ 50–69
• Moderate IQ 35–49
BOX 29.2 A point to remember
• Severe IQ 20–34
• Profound IQ < 20. History and examination are the main ways in which
a diagnosis is made. Investigations are most useful
In practice, people in the UK often use the defini- in confirming or clarifying a diagnosis.
28 tions shown in Table 29.1.
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3. All children with significant learning difficulties mon or easily recognized syndromes, such as Down’s,
should have at least some paediatric assessment to Edwards’ and Sturge–Weber; and others with a number
contribute to identification of special educational of abnormal features not immediately recognizable
needs. as a syndrome but in whom it is possible to make a
When seeing a child referred from school with MLD diagnosis.
enquire about:
• History
• Birth http://www.ncbi.nlm.nih.gov/Omim/
• Progress from birth OMIM (Online Mendelian Inheritance in Man)
• Family dysmorphology database
• Other concerns
• Hearing and vision Developmental regression
• Behaviour If there is progressive loss of skills (Ch. 28) it is
• Poor general health important to consider:
• Time off school, leading to under-achievement • Hydrocephalus
• Whether children are working at their best in • Poorly controlled epilepsy
school • Metabolic disorder/neurodegenerative disorder
• Epilepsy (absences, minor status). • Rett’s disease
Look for dysmorphism or other clues to aetiology. • Infection, particularly in an immunocompromised
host (e.g. AIDS)
• Vascular problem, e.g. repeated minor strokes from
Severe learning disability
moyamoya or sickle cell disease; malformations
It is important to ask or examine for:
causing vascular ‘steal’.
• Genetic abnormalities:
– Dysmorphism True regression can be hard to ascertain because
– Malformations development is taking place at the same time. All child-
• Metabolic defects: ren, and particularly those with a learning disability, will
– Failure to thrive sometimes learn something new and then appear to
– Hypotonia forget it for a while.
– Consanguinity
– Recurrent unexplained illness (especially
MODULE S IX
Reasons to ask for further assessment
anorexia and vomiting) • To obtain an objective assessment of abilities
– Loss of skills • To identify strengths and weaknesses that may help
– Coarse facies with management
– Ocular abnormalities • To assess progress
– Macro- or microcephaly • For the court, such as in cases of neglect
– Family history of unexplained illness or death • For research.
• Brain malformation:
– Abnormal skull
– Focal deficit Q3. What are the pros and cons of
– Loss of skills investigating a child with a learning
– Micro- or macrocephaly
disability?
– Seizures
– Visual abnormality. Pros
• Treatable cause, e.g. hypothyroidism
Syndromes • Genetic counselling may be useful
These are more likely in children with SLD but should • For prognosis
be considered in all children with learning difficulties. • The parents may be helped by knowing the
In children with SLD, about one-quarter have a chromo- cause.
somal disorder; 80–90% of these have Down’s syndrome.
The next most common disorder is fragile X syndrome Cons
(p. 32). • False positives and false negatives
There are now over 2000 syndromes and the number • Pain and complications of investigations
continues to increase. From a practical day-to-day (especially anaesthesia)
perspective they fall into two broad groups: the more com- • Financial cost. 29
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4. BOX 29.3 Pitfalls in screening for metabolic Down’s syndrome (Tables 29.2 and 29.3)
disorders
Incidence is approximately 1 in 1000 live births. The
Beware of thinking you can ‘screen for metabolic risk of having a child with Down’s syndrome increases
29 disorders’ and exclude them. ‘Screens’ look for only with maternal age, so that for a mother in her twenties
a small number of things. Be prepared to investigate the risk is less than 1 in 1000, but greater than 1 in 100
again if things change. See also Chapter 15.
Neurodevelopmental disability
in mothers over 40. However, most babies are born to
mothers in their twenties and thirties.
Almost everyone can recognize a child or adult
Q4. What investigations would you with Down’s syndrome. One of the problems with a
perform, if any? (Box 29.3) well-recognized syndrome is that people can have
preconceived ideas about what a child with Down’s
Investigations should be performed on the basis of
syndrome is like. Children with Down’s syndrome can
clues from the history and examination. The following
be as different from each other as any other group of
investigations may be indicated, particularly in children
children in the population. Some children are able to
with SLD:
follow a mainstream curriculum and achieve GCSE
• Chromosome analysis
passes. Others may never develop language. Some have
• Brain imaging
very limited exercise tolerance, while others achieve
• Metabolic investigations.
sporting excellence.
Q5. How would you manage this child and Genetic types (see also Ch. 9)
family? Most are caused by non-disjunction in meiosis, resulting
in an additional chromosome 21 (47 XY with additional
The neurodevelopmental paediatrician’s role is: chromosome 21). In 20–25% the extra chromosome is
• Establishing whether there is a learning disability paternal. When Down’s syndrome is caused by trisomy
(usually done with a multidisciplinary team). In 21, the recurrence risk is about double that of a woman
younger children it is the health services that are of the same age without a previous history.
primarily involved in this. In older children it is Three to four percent result from translocation of
primarily school-based. material from chromosome 21 on to another chromo-
• Identifying the cause. This may be from the history some. A parent may often have a balanced translocation
and examination or may include investigation. (one of their chromosome 21s is attached to another
• Referral to other professionals as appropriate. These chromosome), but this causes no problem because they
may include: have a normal total amount of chromosome material.
– Speech and language therapy (SLT), However, this tagged-on chromosome may be present
occupational therapy (OT), physiotherapy in a gamete in addition to a normal chromosome
– Psychology 21, giving rise to extra chromosome material in the
– Other medical specialties offspring. There is a greatly increased risk of a couple
– Education having a second affected child.
– Social services. Mosaicism accounts for 2–6% and such individuals
• Looking for and managing associated difficulties. There are usually affected to a lesser degree.
may be problems with hearing, vision, motor
function, behaviour or epilepsy. Some are specific,
Diagnosis
e.g. hypothyroidism in Down’s syndrome.
If the diagnosis is not made on antenatal screening,
• Counselling parents. The neurodevelopmental
it is usually made early in the neonatal period by
paediatrician may be the initial person to do this,
recognition of the typical features of Down’s syndrome.
although others may take up the role later.
It may be a midwife, a paediatrician or the parents who
• Liaison with education.
first recognize that there is a problem with the baby.
• Explanation to child and parents of the likely effects of
There is strong evidence from parents to suggest that
the disabilities.
disclosure should be made as soon as the diagnosis is
• Responding to concerns.
suspected, preferably with both parents present. The
In metabolic disorders some pharmacological treat- diagnosis is confirmed by chromosome analysis.
ments may have an effect on progress. This is a very
specialized area and one that is constantly changing, Management
but it is a good reason for trying to make a specific Down’s syndrome has possible effects on all body
30 diagnosis. systems. Management of children therefore needs
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5. Table 29.2 Down’s syndrome
Feature Comments
Facial features
Prominent epicanthic folds
Flat nasal bridge
Small nose
Protrusion of tongue This is not a large tongue but poor tone
Brachycephaly
Wide hands, short fingers
Distal tri-radius, clinodactyly
Single palmar crease Simian crease may be present in normal individuals
Wide gap between first and second toes
Brushfield spots Spots on iris
Fine soft hair Can have alopecia
Dry, hyperkeratotic skin Helped by simple emulsifying cream and appropriate bath oil
Other skin problems Such as vitiligo, papular erythema, mottled skin (cutis marmorata)
Hypotonia Prominent in the neonatal period. Influences motor development. May result in joint
dislocation
Orthopaedic problems Atlanto-axial instability (see below)
Hip dysplasia/dislocation
Dislocation/displacement of other joints
Cardiac problems See below
Bowel problems Duodenal atresia presents neonatally
Also look out for constipation (Hirschsprung’s disease, hypothyroidism) and malabsorption
Infections More prone to infections, e.g. bacterial pneumonia, otitis media
Hypothyroidism Higher incidence of autoimmune hypothyroidism; important to screen for this
Leukaemia About a 10–20-fold increase. Children may cope badly with intensive treatment
Low fertility Females are fertile
Males often have undescended testes and hypogonadism
Behaviour difficulties Management should be appropriate to developmental age
MODULE S IX
Poor growth and weight problems Frequently poor feeders in infancy. Later a tendency to become overweight and attention to
diet and activity levels is needed
N.B. Use growth charts for children with Down’s syndrome
Presenile dementia Important for long-term support, as carers may be elderly with an affected young adult
Table 29.3 Average milestones for children with Down’s Atrioventricular (AV) canal defects (endocardial
syndrome cushion defects) occur very specifically in children
Milestone Mean age Range with Down’s syndrome (p. 215). Any newborn
Sitting 13 months 6–30 months found to have an AV canal defect should have
Standing 22 months 9–48 months chromosomal analysis.
Walking 30 months 12–60 months Patent ductus arteriosus (PDA), ventricular septal
defect (VSD) and atrial septal defect (ASD) are also
Single words 34 months 12–72 months
more common in children with Down’s syndrome.
40% of children with Down’s syndrome are able to learn to read
Damage to pulmonary vasculature with
irreversible pulmonary hypertension can occur
a multidisciplinary approach. Of the many other much earlier in children with Down’s syndrome
potential problems in a child with Down’s syndrome, than expected from the size of the shunt alone.
there are two that deserve particular mention: PDA, ASD, VSD and AV canal defects should be
• Congenital heart disease. This occurs in 40–50% considered for early surgical intervention.
of babies with Down’s syndrome. All newborn • Atlanto-axial instability. Routine cervical spine X-
babies should be evaluated, with observation ray used to be recommended but review of X-rays
(of feeding etc.), physical examination, of the same child taken minutes apart could give
electrocardiogram (ECG), chest X-ray (CXR) and rise to completely different advice. Spinal cord
echocardiogram. damage in Down’s syndrome is rare and usually 31
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6. insidious rather than acute. It is important not to Features are very variable and some are only evident
frighten parents and cause children to be wrapped in adolescent or adult life. Clinical diagnosis in a
in cotton wool and prevented from joining in young child is difficult.
appropriate activities; however, parents do need Families need careful genetic advice.
29
relevant information to enable them to recognize Other sex chromosome abnormalities in which
symptoms that should be reported. The three most learning disability may occur are discussed in
Neurodevelopmental disability
common symptoms are: Chapter 9.
– Deterioration/change in gait or manipulation
skills
– Neck pain/stiffness Neurocutaneous syndromes
– Difficulties with sphincter control.
These may also cause learning disability (pp. 8–10).
Children with any of these should be investigated
urgently.
Advice should be given to other regular carers Rett’s syndrome
of children with Down’s syndrome and included
in medical advice for assessment of special This presents as a neurodegenerative disorder but
educational needs. is probably a neurodevelopmental disorder. It is
sometimes classified with the pervasive development
http://www.dsmig.org.uk disorders such as autism. Genetic advances in Rett’s
Guidelines on surveillance for people with Down’s have been rapid in recent years. Milder cases and cases
syndrome in boys are being described. It constitutes about 10%
of SLD in girls.
Fragile X syndrome
This is probably the second most common known Specific learning difficulties
syndromic cause of global learning disability (about
1 in 1360 males and 1 in 2000 females; a further 1 in The Education Code of Practice defines children as
1000 females are asymptomatic carriers). The degree having specific learning difficulties when they have
varies from mild to severe in boys, and mild to moderate ‘significantly’ more difficulty in a specific area than
in girls. The defect in fragile X is now known to be an most children of the same age that is not due to general
expansion in a specific DNA triplet repeat (CGG) on learning disabilities.
the X chromosome. ICD and DSM (Diagnostic and Statistical Manual of
Physical features include: Mental Disorders) definitions depend on the child having
• Long face and slightly increased head a normal IQ and no other problems, but there is no
circumference reason why a child with generalized learning difficulties
• Macrognathia cannot have specific difficulties in one particular area,
• Large protuberant ears over and above their general level of difficulty.
• Flattened nasal bridge
• Abnormal dermatoglyphics
Specific reading disorder
• Macro-orchidism
• Infantile hypotonia The term ‘dyslexia’ is used, but very loosely, for a wide
• Connective tissue dysplasia (joint laxity and soft variety of difficulties at school.
velvety skin)
• Aortic dilatation and mitral valve prolapse
• Recurrent otitis media Writing disorder
• Failure to thrive in infancy There is a lot of overlap between reading and writing
• Tonic–clonic or partial epilepsy, temporal spikes problems (dysgraphia).
on electroencephalogram (EEG)
• MRI scan abnormalities (especially cerebellum).
Mathematics disorder (dyscalculia)
Psychological features include:
• Variable intellectual impairment Incidence is probably similar to dyslexia and dysgraphia
• Language delay but there are interesting differences:
• Social impairments, such as those seen in • Dyscalculia is seen equally in boys and girls
autism (though recent work suggests that dyslexia may
32 • Attention and concentration difficulties. also be equally represented).
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7. • It is seen more in fragile X carriers, Turner’s Secondary problems include:
syndrome, phenylketonuria (PKU) • Behaviour problems
and ADHD. • Poor self-esteem
• It is the most common learning difficulty in • School failure.
epilepsy.
When a child first presents at the clinic, a general
paediatric and neurological assessment is needed, parti-
cularly to exclude other causes. There are no specific signs
Developmental coordination on neurological examination. Assessments specifically for
disorder (DCD) DCD are best carried out by an occupational therapist,
but the paediatrician should perform some initial
Currently, this is the term used most commonly for screening.
children with motor coordination problems. A number of
conditions can present with clumsiness other than DCD Management
and these need to be excluded because management is The mainstay of treatment is occupational therapy and
different. Evidence of deterioration should be sought physiotherapy. Management can be considered under
at presentation and at reviews. the following headings:
• Explanation to child, parent and teacher
• Specific advice to parents and teachers to help in
Differential diagnosis
specific areas such as handwriting and dressing
• Muscular dystrophies
• Improving self-esteem
• Cerebral palsies
• Specific therapy.
• Brain tumours
• Brain injury
• Hydrocephalus Problem-orientated topic:
• Ataxias, such as Friedreich’s ataxia (p. 14)
• Metabolic disorders disruptive behaviour (ADHD) ●●●●
• Polyneuropathies Connor is 7 years old. His mother, a single
• Seizure disorder (p. 5)
parent to Connor and his 4-year-old sister,
• Vestibular disease
has always struggled with his behaviour.
• Tremors and other involuntary movements.
Now things are going very badly at school.
MODULE S IX
History, examination and, if appropriate, investigation Connor has barely started to acquire literacy
should exclude these diagnoses. skills, although he seems a bright child. His
disruptive behaviour in class is now such a
Presentation problem that he is frequently sent home. His
This is variable and depends on the age of the child, class teacher has advised his mother to seek
though most patients do not present until school age. a medical appointment. He was initially slow
There is a mixture of gross and fine motor problems. to acquire language but other milestones
Gross motor problems include:
were normal. Last week he set fire to his
• Awkward gait, ungainly running
bedroom carpet.
• Falling a lot
• Bumping into things
• Poor balance
Q1. What is attention deficit/hyperactivity disorder?
• Poor balancing on one leg, inability to hop Q2. How would you assess Connor for this
• Slow (or failure of) learning to ride a bike condition?
• Difficulty learning to swim Q3. How should you manage Connor and his
• Poor at catching, throwing, batting a ball. family?
Fine motor problems include: Q4. What is Connor’s prognosis?
• Difficulty dressing (clothes on the wrong way
round or in the wrong order, difficulty with
buttons and zips)
Q1. What is attention deficit/hyperactivity
• Feeding messy; difficulty using a knife and fork
disorder?
• Poor at building with bricks, jigsaws, drawing
• Poor pencil control for writing This is not a new disorder explained by environmental
• Difficulty using scissors and rulers. pollutants or ‘made up’ to explain away naughty 33
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8. children. Frederick Still described children in 1902 be over-estimated because boys show more obvious
with a ‘defect in moral control’, which almost certainly aggressive behaviour and girls have more inattention.
was ADHD.
29 Individuals with ADHD have: The underlying problem
• Inattention This appears to be an executive function deficit.
• Hyperactivity Executive functions include:
Neurodevelopmental disability
• Impulsivity: excessive in the context of age, sex and • Self-regulation
cognitive ability. • Sequencing of behaviour
• Flexibility in response
For a diagnosis to be made these symptoms should
• Response inhibition
be:
• Planning
• Present in more than one situation
• Organization.
• Present before the age of 6/7 years
• Impairing the child’s educational or social
Pathology
functioning.
Development of the frontal lobes is relatively late
and myelination is not complete until adolescence.
Inattention
Neuroimaging studies have been inconsistent but the
There is poor regulation of attention and this is
frontal cortex and its connections, as well as intracerebral
manifest particularly in difficult, imposed tasks that
connections via the corpus callosum, have abnormal
are not immediately rewarding. A child may attend to
activity. There may be differences in brain volume and
a video game or watch a TV programme with sustained
size of the cerebellum. Functional magnetic resonance
attention but be unable to concentrate in school.
imaging (MRI) shows diffuse and decreased activity
when individuals with ADHD undertake tasks requiring
Hyperactivity
concentration. There is abnormal handling of nor-
This is manifest differently at different ages:
adrenaline (norepinephrine) and dopamine in the
• The preschool child will rush around, jumping and
brain. This theory is supported by response to treatment
climbing noisily and being unable to settle in play.
with drugs affecting these neurotransmitters.
• The school-age child may be fidgety, squirming
and having difficulty remaining seated.
Aetiology
• The adolescent is restless, with foot-tapping and
• Genetics. Genetics is the major factor governing
twiddling, and is unable to sit quietly.
whether or not a child has ADHD. It has been
estimated that there is between 54% and 98%
Impulsivity
heritability.
Impulsivity means not thinking before acting; it often
• Environment. This also plays a part, particularly
results in getting into trouble for being cheeky or
maternal depression and social disadvantage. It
reckless. The child may have frequent accidents.
is likely that there is an interplay of genetics and
environment, with environmental factors maintaining
Secondary problems
or exacerbating ADHD rather than causing it.
Most children have secondary problems, including:
• Central nervous system damage. ADHD is also more
• Poor self-esteem
frequent following:
• Poor peer relationships
– Perinatal problems and prematurity
• Poor relationship with parents
– Antenatal insults, such as fetal alcohol
• Sleep/wake problems
syndrome or maternal smoking
• Dietary problems (will not settle to eat).
– Head injury, especially frontal lobe damage
– Encephalitis and meningitis
Epidemiology (Table 29.4)
– Hypoxic episodes, such as drowning and
ADHD is almost certainly still under-diagnosed in
strangling
parts of the UK, depending on where the child lives.
– Cerebrovascular accidents
All studies show a predominance of boys, but this may
– Chronic neurological illness, such as epilepsy,
Table 29.4 Epidemiology of ADHD
metabolic problems (e.g. PKU)
Population Incidence
– Medical treatments, such as cerebral irradiation,
anticonvulsants
UK (inner city) 1.5% of 7-year-olds
– Certain conditions such as Williams’ syndrome,
UK (general) 0.5–1% (hyperkinetic) hypothyroidism, tuberous sclerosis, XYY, XXY
3–7% ADHD
34 and fragile X syndrome.
V0229-F01906.indd 34 2/13/07 5:38:38 PM

9. Q2. How would you assess Connor for this • Unrealistic expectations on the part of parents or
condition? teachers
• Poor parenting
Diagnosis is made by assessing information from a • Bullying
variety of sources. This is time-consuming and more • Bored bright child
than one clinic visit is usually needed. • Learning difficulties
• Sleep problems
History • Conduct disorder.
• Current concerns, with specific examples, onset of
problems and situation
• Antenatal and perinatal history for possible risk Investigations
factors These are rarely indicated but you may need to exclude
• Early development: babies may be hyperactive with other causes of hyperactivity or inattention, such as
sleep problems, feeding difficulties, colic, waking hearing loss, epilepsy, thyroid disorders, side-effects of
early drugs:
• Medical problems for risk factors and differential • Test chromosomes if the child is unusually tall
diagnosis (XYY) or has learning difficulties (fragile X) or
• Educational problems for difficulties in different dysmorphism.
environments • Order an EEG if there is suspicion of subclinical
• Relationships with parents and peers epilepsy or absence epilepsy (poor concentration
• Family history rarely is absence epilepsy).
• Social situation, looking for other causes of
difficulties Comorbidities
• Possible comorbidities (see below). Comorbidity appears to be the rule rather than the
exception in ADHD. The common additional problems
Examination are:
• Physical and neurological examination for • Reduced cognitive ability (IQ on average is
associated problems (e.g. clumsiness), other 5–15 points lower)
problems (e.g. hearing, vision) and other diagnoses • Specific learning difficulties (particularly in
putting the child at risk (e.g. dysmorphism, reading)
tuberous sclerosis) • Delayed language development and poor language
MODULE S IX
• Mental state looking for poor self-esteem, skills
depression, anxiety • Developmental coordination difficulties (DCD)
• Developmental assessment: behaviour • Oppositional/defiant disorder and conduct
inappropriate for developmental age. disorder (ODD/CD)
• Mood disorders (anxiety, depression)
Observation in different settings is vital:
• Obsessive–compulsive disorders (OCD)
• During the initial assessment
• Tourette’s syndrome
• In school/playground/nursery/playgroup
• Autistic spectrum disorders.
• At home (parental report may be adequate).
It is important to identify these to optimize treatment.
Structured questionnaires, e.g. Conner’s Scales, play
an important role in the screening and diagnosis of
ADHD.
Psychometric testing is helpful in identifying those
Q3. How should you manage Connor and
children whose primary problem is a learning difficulty
his family?
and comorbid specific learning difficulties. Information is an important aspect of management.
Making the diagnosis and making this known to all
Differential diagnosis involved may, in itself, help the child, parent and teachers
• Physical illness to cope with the ADHD:
• Drugs (either prescribed or of abuse) • Oral and written information should be made
• Attachment difficulties available.
• Social issues (e.g. family break-up) • The child should be informed as well as the
• Child abuse (especially if change in behaviour) parents.
• Depression/anxiety • Teachers should be informed about the diagnosis
• Hearing problems and, if necessary, about what it means. 35
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10. Support groups • Rebound behaviour difficulties
These can be very helpful to parents and child. • Tics, although it is not certain that these are a true
side-effect or constitute a coexistent tic disorder
29 • Marrow aplasia (very rare).
Educational measures
Simple suggestions can be very helpful such as: Atomoxetine is a non-stimulant selective noradre-
Neurodevelopmental disability
• Having the child sit near the teacher nergic reuptake inhibitor, which was licensed for use in
• Removing distractions where possible ADHD in the UK in 2004. Research suggests that it has
• Clear, frequent and small rewards and discipline a significant effect in around 70% of individuals with
• Working alone or in small groups ADHD. It is used as a once- or twice-daily medication
• Addressing any learning difficulties. (and therefore does not need to be given in school).
Side-effects may include somnolence, gastrointestinal
effects and rarely liver problems.
Behaviour modification
Positive reinforcement is very important. Children with http://www.nice.org.uk//page.
ADHD often have low self-esteem. Children respond aspx?o=TA098guidance
best to a well-structured, predictable environment where
expectations and rules are clear and consistent, and Diet
consequences are set down ahead of time and delivered Diet has long been suggested as an important cause
immediately. of behaviour problems. Additives in the diet worsen
hyperactivity but do not cause ADHD. It is worth
checking whether the parents have noticed any foods
Medication that cause deterioration in behaviour and removing
Medication is the single most effective approach in them from the diet.
severe ADHD.
Stimulant medications (methylphenidate, dexamphe- Sleep
tamine) affect the dopamine pathways in the brain but Many children and young people with ADHD have
the exact mechanism of action is unclear. They may poor sleep patterns and cannot usually stop themselves
stimulate areas of the brain that are not functioning waking others when they are awake. It is seldom safe
properly. They do not affect the underlying pathology but to leave such a child unattended for long and families
control some symptoms, so that behavioural management are often very sleep-deprived. This may greatly limit
can be more effective, school work can progress and their capacity to cope with their constantly active
social relationships can develop better. They work best offspring in the daytime! Although stimulants may
in controlling hyperactivity and impulsivity but are less cause insomnia in some children, a teatime dose may
effective in controlling inattention. Methylphenidate, the actually help a child to get off to sleep by calming a
most frequently used medication, is usually started at a racing mind. In other children, the use of melatonin
dose of 2.5–5 mg twice or three times a day, increasing to regulate sleep patterns and quality is very useful.
by 2.5–5 mg weekly until the desired effect is achieved.
A maximum of 20 mg per dose, or 45–60 mg per day,
4. What is Connor’s prognosis?
should be used. If there is no effect after 3 weeks at
Some children continue to have difficulties in adult
maximum dose, it should be stopped.
life. Various groups have reported similar findings,
Sustained-release products are now available. These
with approximately 30% within the normal range as
have a lower incidence of side-effects and, as they are
adults, 50–60% continuing to have problems with
long-acting, do not need to be given in school.
concentration, impulsivity and social interaction, and
Between 60 and 80% of children are helped by
10–15% having significant psychiatric or antisocial
stimulant medication. Side-effects occur but are not
problems (depressed, suicidal, drug and alcohol abuse,
usually severe and include:
convictions for assault, armed robbery etc.).
• Stomach ache and headache
The prognosis is best for those children with ‘pure’
• Decreased appetite
ADHD and worse for those with severe symptoms, comor-
• Sleep disturbance
bidities, and poor family and educational support.
• Cardiovascular effects (blood pressure should
be checked before starting treatment and at
follow-up)
• Unhappiness/withdrawal
The cerebral palsies
• Growth suppression (0.5–1.0 cm if treatment is Cerebral palsy (CP) is defined by the Oxford Register
36 continued throughout puberty) of Early Childhood Impairments as:
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11. BOX 29.4 Exercise: terminology in cerebral palsy BOX 29.5 Feedback on terminology
Have a go at defining these commonly used terms: • Tone is the resistance of a muscle to passive
• Tone stretch (hypertonia — increased resistance,
hypotonia — reduced resistance)
• Spasticity
• Ataxia • Spasticity is a velocity-dependent increase in
resistance to passive stretch. Spastic muscles
• Athetosis are not necessarily hypertonic. The key is the
• Chorea velocity dependency; spasticity is an abnormal
• Dystonia response to rapid stretch. Usual associated
features are clonus, increased deep tendon
reflexes and extensor plantar responses
A permanent impairment of voluntary movement or posture • Ataxia is an abnormality in the smooth approach
presumed to be due to permanent damage to the immature to an object, with wide-amplitude corrections
brain. Children with progressive disorders and those with during the movement. In relation to gait, ataxic
profound hypotonia and no other neurological signs (often means broad-based, poorly coordinated
associated with severe intellectual delay) are excluded. It
• Athetosis is the characteristic of slow writhing
is an umbrella term which includes a heterogeneous group movement, usually seen in the distal part of the
of conditions and can arise at any point during brain limb during voluntary activity
development.
• Chorea is rapid, high-amplitude, sudden
There are three main types: involuntary movement
• Spastic CP, which can be divided into diplegia, • Dystonia is abnormal tone, either high or low. It
hemiplegia and quadriplegia depending on areas usually refers to abnormal sustained contractions
affected of agonists and antagonists resulting in an
• Ataxic CP unusual and abnormal posture, e.g. inversion of
• Dyskinetic CP. foot, retraction of shoulders etc.
Terminology
See Boxes 29.4 and 29.5. severe learning difficulties, may occur as a result
of brain injury in late third trimester. Prolonged
Classification partial asphyxia in a term infant may be the cause
MODULE S IX
CP refers to a group of disorders. Classification is (p. 365). Acute profound asphyxia may develop in
based upon clinical descriptions of neurological signs. the third trimester as a consequence of antepartum
It is commonplace to find mixed patterns with one haemorrhage, cord prolapse or uterine rupture
predominant aspect, e.g. hemiplegia with some involve- and may lead to damage in the basal ganglia and
ment of the good side, diplegia with asymmetry in the thalami which may be confirmed on MR scanning.
upper limbs etc.: The clinical correlate is the later development
• 27 Spastic diplegia. Recent magnetic resonance of dyskinetic cerebral palsy, often with relatively
55 studies show that the underlying lesion preserved cognitive function. The contribution of
63
in most cases of spastic diplegia is perinatal asphyxia to the overall prevalence of CP
periventricular leucomalacia (p. 367). is debatable, but most agree an estimate of about
• 54 Spastic hemiplegia. Spastic hemiplegia 10% of all cases.
constitutes about 25% of all cases of CP. Dyskinetic CP may also arise due to bilirubin
The cause is usually an infarction within the encephalopathy in the neonatal period. These cases
distribution of the middle cerebral artery (p. 367). were more common in the past, but prevention
• 12 Total body involvement CP. In these cases the and improved management of rhesus iso-
64 brain pathology most commonly originates immunization have resulted in a dramatic fall in
in the prenatal period and may be due to the number of cases.
a variety of abnormalities such as primary Ataxic CP (about 5% of CP) is mainly of prenatal
cerebral dysgenesis (lissencephaly/pachygyria), origin. There may be strong familial patterns, with
early pregnancy infections (e.g. cytomegalovirus autosomal dominant, X-linked and autosomal
(CMV), toxoplasmosis), or vascular malformations recessive modes of inheritance. Sporadic cases
and vascular accidents (e.g. hydranencephaly). are also seen. Children show ataxia, intention
Spastic tetraplegia with bilateral cerebral tremor and dyskinesia, usually before 2 years of
hemisphere infarction, sometimes with extensive age. Some may achieve independent walking by
cyst formation (multicystic encephalomalacia) and 4–6 years, although in these cases handwriting 37
V0229-F01906.indd 37 2/13/07 5:38:38 PM

12. remains problematic and, in more severe cases,
learning difficulties and seizures may complicate
the presentation. About 30% show normal or
borderline intellectual function. A magnetic
29
resonance study of ataxic CP showed that over 50%
were unclassifiable, 23% were genetic, and only 4%
Neurodevelopmental disability
(3 cases) may have had a perinatal cause.
Epidemiology Spasticity Fixed musculo- Fixed contracture
Prevalence of the cerebral palsies is about 1.7–3 cases/1000 Dynamic contracture tendinous and bony deformity
contracture
live births. There may have been a trend of increase in Treatment
the overall prevalence of CP in children born in the
Physiotherapy Surgical Surgical lengthening
1970s and 1980s. The main area of increase has been Orthotics lengthening correction of torsion,
in the most immature babies weighing under 1 kg. Botulinum toxin arthrodesis
The reasons for this increase are unclear but probably
relate to dramatic changes in survival of very immature Fig. 29.1 Spasticity: management
infants.
Another important aspect of epidemiology is sur- – Infection (e.g. meningitis)
vival. Most children with CP now survive to adult life, – Toxins (e.g. hyperbilirubinaemia)
even when disease is severe. This is having an impact on – Perinatal asphyxia
services for adults as well as children. • Postnatal:
– Infection
Problem-orientated topic: – Vascular accidents
– Head injury (accidental or non-accidental)
delay in walking ●●●●● – Encephalopathy
– Anoxic event.
Matthew is 18 months old and his mother is
concerned that he is not yet walking. He is a
bright, sociable child, who has several single
Q2. What are the possible diagnoses?
words. He was born at 27 weeks’ gestation One likely cause for this history is CP and this is
and had a difficult neonatal course. confirmed by abnormal physical signs. A familial delay
should also be considered, as well as rarer causes such
Q1. What questions would you ask to elucidate a as Duchenne muscular dystrophy (p. 17) in boys.
cause? It is important to remember that everything that
looks like CP may not be. Many infants with complex
Q2. What are the possible diagnoses?
congenital abnormalities (dysmorphic syndromes)
Q3. What are the principles of management? will display central motor impairment. These children
will require similar services.
Q3. What are the principles of
Q1. What questions would you ask to management?
elucidate a cause?
This depends upon the stage of the disorder (Fig. 29.1).
An underlying cause may not be apparent, but the Different approaches to treatment have, from time
following should be considered in history-taking: to time, attracted considerable interest and enthusiasm,
• Prenatal: as well as opposition. Only recently have attempts been
– Genetic made to study the relative merits of each in objective
– Infection (e.g. CMV, rubella, chorioamnionitis) ways. No single approach will suit all children with a
– Toxins (e.g. drugs) particular form of CP. In most centres in the UK staff
– Trauma follow an eclectic approach, deriving therapeutic ideas
– Nutritional (‘placental insufficiency’) from a variety of ‘methods’. No study has convincingly
• Perinatal: shown benefits of one approach over another.
– Prematurity (intraventricular haemorrhage/ Management involves regular assessment of the
periventricular haemorrhage/periventricular child (with parent/carer involvement) and close multi-
38 leucomalacia) disciplinary working.
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13. Key professionals reducing contractures. The duration of effect is
• The physiotherapist is responsible for development usually 10–14 weeks, and measurable effects may
of motor skills, and assessment for lower limb persist for up to 26 weeks.
orthoses and specialized supportive equipment, • Baclofen. This analogue of gamma-aminobutyric
such as standers and mobility aids. In the early acid (GABA) impedes excitatory neurotransmission
stages physiotherapy is aimed at interrupting the at a spinal level. Oral baclofen is rapidly absorbed,
circle of malachievement caused by abnormal but is protein-bound and has poor penetration
muscle tone. The child’s carers are shown methods into CSF because of poor lipid solubility. The half-
of handling and carrying out everyday tasks that life is 3–4 hours, requiring regular dosing (3 times
help this. daily). Response to oral baclofen is unpredictable;
• The speech and language therapist plays these key a number of children will show a satisfactory
roles in CP: response, with reduction in muscle tone, but
– Most importantly, helping with feeding early in others will develop unacceptable side-effects,
life including somnolence, confusion, difficulties
– Helping early communication development with oral control, ataxia and increased frequency
– Help with speech, which may be severely of micturition. Recently, baclofen by continuous
impaired infusion has been given by an intrathecal catheter
– Management of dribbling and pump delivery system to achieve higher
– Provision of communication aids. and continuous CSF baclofen levels. Baclofen is
• The occupational therapist will assess the need for perhaps most useful when there is generalized
equipment to facilitate aspects of daily living, e.g. increase in tone, which would require multiple
bathing, toileting, static seating, feeding etc., and injections of botulinum toxin, e.g. in the child with
fine motor skill function, perceptual skills and the severe spastic tetraplegia.
use of upper limb orthoses. Adaptations may also
be required in the home. Surgery
The orthopaedic surgeon has a major role to play in
management of CP. Orthopaedic surgery may be
Specialized equipment
indicated to improve function, to prevent deterioration,
• Orthoses. The purpose of an orthosis is to restore
to relieve pain and to facilitate care.
the normal distribution of forces acting through
There are two surgical aspects to the management
the limb, thereby normalizing musculoskeletal
MODULE S IX
of CP:
relationships and establishing a normal pattern
• Selective posterior rhizotomy. Two groups of patients
of motion and/or prevention of progressive
are most suitable: children who are of good
deformity. Hence children with a persistently
intelligence, well motivated and sufficiently strong
equinus foot may wear an ankle orthosis. Other
to achieve walking after spasticity is reduced, and
orthoses facilitate hand function. Some children
severely affected, non-ambulant patients in whom
experience upper limb spasticity at night; a night
painful spasm can be reduced.
resting splint will hold the hand in a neutral
• Single event multilevel surgery with associated gait
position in children, thus optimizing functional
analysis. When fixed contracture of muscles
use during the day.
occurs, surgical release has been required to
• Special seating, standing and lying frames. These are
correct the deformity. The traditional approach
used to try to maintain good posture and to give
has been to undertake soft tissue surgery in a
the child optimal positioning and support for
‘phased’ manner, dealing with one area at a time.
feeding and play.
Recently it has become clear that this approach
• Supportive bracing. This may be needed in some
of repeated operations, often on a yearly basis,
quadriplegic patients to prevent progression of
frequently does not improve long-term function.
spinal deformity.
As a result, techniques of thorough pre- and post-
operative assessment have been developed, in
Specific drug treatment particular gait analysis. The latter has led to a better
Drugs are now being used more widely in CP: understanding of normal gait in children and
• Botulinum toxin A (BT A). This works by chemically hence the abnormal gait of the child with
denervating the muscle, allowing it to relax, CP. Detailed surgical planning is based upon
which may enable improved gait or easier care, for objective rather than subjective information. Gait
example. Relaxation of the muscle may also enable analysis also allows proper objective review after
it to grow better by allowing stretching and thereby surgery. 39
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14. Associated problems Other associated problems include:
Difficulty may arise from motor problems: • Vision problems. These are common (50%),
• Feeding difficulties. Feeding may be a considerable particularly myopia, cortical visual impairment
problem, leading to inadequate quantity and quality and squint.
29
of intake. Children with spastic quadriplegia or • Hearing problems. These occur in 20–30%,
athetoid CP may have such severe feeding difficulties particularly sensorineural deafness. It is also
Neurodevelopmental disability
that they fail to thrive. Recurrent aspiration during important to look for conductive problems.
feeding may lead to serious chest complications, • Learning disabilities. These are found in all types
and children with severe CP commonly suffer of CP. Generalized learning difficulties tend to be
from significant gastro-oesophageal reflux (up related to severity of physical problems; however,
to 70% having oesophagitis). It is important to not all children with severe motor problems have
address positioning and consistency of food, and learning difficulties and children with relatively
to consider the need for gastrostomy feeding. mild motor problems may have significant
A multidisciplinary approach is essential for learning difficulties.
significant feeding problems and many places will • Specific learning difficulties. These are also seen more
have a ‘feeding clinic’. frequently in CP and can easily be overlooked.
• Drooling. This is associated with speech and Assessment can be very difficult if there are severe
feeding problems and can be a significant cosmetic motor problems.
handicap, as well as being very messy and affecting • Epilepsy. Around 21% of children with CP develop
the skin around the mouth and neck. It is usually epilepsy, which may be difficult to control.
due to a problem with swallowing saliva rather than • Psychological problems. These may be due to
excessive production. Techniques used to help it are: physical difficulties, or children may have
– Prompting and rewards for swallowing problems directly related to the underlying
– Positioning and exercises to improve oro- brain disorder.
motor function and sensory awareness, • Educational issues. Most children will go to
now sometimes aided by intra-oral training mainstream school and need a minimum of help.
appliances Some adaptations may be necessary, e.g. ramps,
– Medication with anticholinergics to reduce handrails, lifts, special toilet facilities and adapted
secretions working surfaces in the classroom.
– Surgery to direct the ducts further towards the
back of the mouth
– Occasionally, removal of salivary glands Communication and its
– Intraglandular botulinum toxin injections.
• Dislocated hips. These are an important
disorders
complication in CP and routine screening by X-ray Basic science
is needed. Good postural management will help to
prevent dislocation. When thinking about speech and language development,
• Bowel and bladder problems. Incontinence may you must address the different skills necessary for
result from learning difficulties, but may be a communication. These include the following.
problem of not being able to get to the toilet in
time or undress quickly enough. Constipation is Attention control
common, particularly in the immobile child and The child must have adequate listening skills and
those with restricted diets. It may also be associated attention.
with abnormal gut sensitivity and motility. It is
important to try to prevent problems by Symbolic understanding
explaining to the parents and child about normal Words are symbols, so unless children can understand
bowel function and giving dietary advice. If the concept of symbols, they will not understand speech.
constipation occurs, the earlier it is treated, the
better. Comprehension
• Osteopenia. The increased risk of bone fractures Does the child understand spoken language?
in children with motor disabilities is linked to
reduced bone density. Measures such as weight- Expressive speech
bearing, particularly ambulation, good nutrition This is the area of communication most easily identified
(especially calcium, vitamin D and magnesium) by both parents and professionals, and so tends to be
40 and sunlight will help. what people concentrate on in the early stages.
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