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NEURODEVELOPMENTAL DISORDERS

DEVELOPMENTAL DELAY

Definition

Developmental delay describes the delayed acquisition of milestones, and is a description not a diagnosis. It
may be a symptom of developmental disabilities.

Common conditions

 Intellectual disability with or without autism spectrum disorder .


o More on ASD later
o Mild ID (IQ 55-70) with ASD – these children go to support units in mainstream schools
o Moderate ID (IQ 40-55) – these children go to a support unit IO class in a mainstream school.
At around halfway in the moderate ID category (~IQ 50), the benefits of mainstream
integration tend to be lost as the children are so far behind their peers. These children go to
a special school.
 Single non-heritable gene conditions
o Down Syndrome most common
 Other heritable conditions
o Fragile X (discussed later)
 Point mutations
o Williams syndrome
o VCFS (chromosome 22)
o Angelmans (chromosome 15)
 Rare syndromes
 Undiagnosed syndromes

INTELLECTUAL DISABILITY

ID is a permanent disability of cognition


beginning in childhood. In preschool we
call it developmental delay. It causes
impaired cognition, i.e. perception,
memory and reasoning that promotes
understanding, planning and
problem solving. The onset is in the
developmental period, and the
severity is determined by the level
of functional impairment. 2-4%
population is affected, with more
males affected (M:F 2:1).
In children with ID, things take longer and more repetitions are needed. In childhood, learning does occur, but
the functional gap widens.

Note that no matter how severely handicapped you are, you have to go to school at the age of 5. Also note
that above graph and table are separate and do not correlate.

COMORBIDITIES

 Autism spectrum disorders


 Epilepsy
 Cerebral palsy
 Sensory impairments (often missed) – such as hearing/vision
 General health (may be related to underlying condition) leads to shorter life expectancy

INVESTIGATIONS

 Assessment should include:


o PCR for Fragile X, comparative genomic hybridisation (CGH) microarray
o FBC/UEC/LFTs/TFTs
o Urine metabolic screen
o Hearing and vision testing
 MRI indicated if there are neurological signs
 EEG only if seizures

EFFECT ON FAMILY

 Chronic sorrow and joy


 High care needs with activities of daily living and therapies
 Family stress, relationship breakdown – note that some children are in out of home care
 Financial – e.g. carer allowance, carer payment. Recently there is a transition to the NDIS – basically a
butt load more paperwork

AUTISM SPECTRUM DISORDER

Definition

ASD is characterised by deficits in social communication and social interaction. It involves repetitive behaviours
and restricted interests. Deficits must be

 Maladaptive
 Present in multiple contexts
 Begin in early development
 Not better explained by intellectual disability

The presentation is highly variable, and depends on the child’s age and co-morbidities. The child’s “adaptive
function” determines the level of ASD

 Level I Requiring support


 Level II Requiring substantial support
 Level III Requiring very substantial support
Some statistics

 40-70% have language impairment


 45% have intellectual disability
 8-30% have epilepsy
 ADHD seen in 28-44%
 Anxiety/depression in 70%

Medications have a limited role

 Stimulants e.g. ritalin: reduce activity and increase attention


 SSRIs e.g. fluoxetine: reduce anxiety, repetitive behaviours and alleviate depression
 Anti-psychotics e.g. risperidone: reduce agitation, self-injury and aggression. Side effects of
risperidone include weight gain and dyskinesia (which may not be treatable)

CEREBRAL PALSY

CP is a non-progressive motor disability which results in abnormal posture movements and tone, due to brain
injury in early brain development. Prevalence is 2 per 1000. Signs may change as the child develops, including
motor delay/feeding difficulties/abnormal movements/hand preference. Types of CP include:

 75% spasticity (hemiplegia, diplegia or quadriplegia)


 20% dyskinetic (basal ganglia damage)
 5% ataxic (cerebellar lesions, hypotonia)

Statistics

 10% due to perinatal asphyxia


 10% due to other brain malformations
 80-90% have abnormal MRI
 Comorbidities:
o 25-33% epilepsy
o 50% cognitive impairment
o 10% vision, 4% hearing impairment

Management

Management depends on the degree of handicap. Naturally, the worse the disease, the more aggressive the
treatment is. It can involve:

 Speech/physiotherapy/OT/Educational
 Rehab teams may use PEG feeds/Botox/Surgery

Treatment options

 Strengthening
 Stretching
 Splinting
 Botulinum toxin A
 (Selective Dorsal Rhizotomy) level 2 or 3
 Serial casting Level 1-3. Usually to get feet into a good position for walking
 Orthopaedic surgery
 Oral medications (Level 3-5)
 Intrathecal baclofen pump treatment (level 3- 5)
 Pain management (level 3-5). More tone = more pain
 Scoliosis surgery
 Adaptive equipment
 Palliative care

Opposite shows GMFCS – the gross motor function classification score, displaying the physical
abilities and needs of different grades of severity – as we see it ranges from normal to requiring
a walker or a wheelchair

DOWN SYNDROME

Down syndrome occurs in 1:1000 live births, and 95% are due to complete trisomy 21,
3-4% from unbalanced translocation and 1% from mosaicism. Complications include:

 Intellectual disability
 Cardiac
 Thyroid
 Respiratory
 Vision/hearing

Management

 Triple screen (AFP/HCG/oestriol) + US = 85% detection, with 5% false positive rate


 Early issue is feeding and growth
 Cardiac – 40-50%
o Atrioventricular canal
 Development – delayed gross motor and speech, mild to moderate ID, IQ decreases from 60 to 40 on
average with increasing age
 10% have autism
 Alzheimers – 75% by 60 yo

FRAGILE X

Fragile X affects boys mainly. The degree of ID is related to the


number of repeats, and can range from mild to severe. These
children are tall with long face with prominent ears, and often
have autistic features.

It is caused by mutation of the FMR1 gene on X chromosome (so


the mother may be mildly affected). There is a trinucleotide
repeat sequence. Carriers have 50-150 repeats, while >200
repeats is generally found in affected individuals

Frequency

 1/1250 males
 1/5000 females
Medical concerns

 Large ears, long face, large testes


 20% can have epilepsy
 Ligamentatous laxity

Fragile X learning

 0-4: developmental delay, speech delay, perseveration, cluttering, hyperactivity, gaze aversion,
flapping, sensory defensiveness
 5-18+: Mild – moderate (+) intellectual disability, females 1/3 – ½ have ID, social aversion/anxiety,
poor coordination

VELOCARDIOFACIAL SYNDROME

Velocardiofacial syndrome occurs due to an interstitial deletion at


22q11.2 (del 22q).

There is autosomal dominant transmission, and prevalence is 1 in


4000.

Abnormalities

 Mild – moderate intellectual disability


 Behavioural problems
 Learning difficulties
 Palatal abnormalities, VPI (50%) CSOM
 Congenital heart disease (75%)
 Characteristic facies (beaked nose, narrow palpebral fissures, small chin)
 Thymic aplasia, hypocalcaemia (rare)

WILLIAMS SYNDROME

Williams syndrome is caused by micro-deletion elastin (ELN) gene chr (de novo). Prevalence is 1/8,000.
Features include:

 Infantile hypercalcaemia
 Supravalvular aortic stenosis (75%)
 Elfin-like facies
 Growth deficiency
 Microcephaly
 Mild to moderate intellectual disability
 Verbal > performance skills
 Hyperactivity
 Emotional lability
ANGELMAN SYNDROME

80% of angelman syndrome cases is due to 15q11-q13 (UBE3) maternal deletion, but other
causes can include paternal uniparental disomy. A healthy individual receives two copies of
chromosome 15, but due to epigenetic imprinting, one is silenced. The maternal allele is
almost exclusively the active one, so if the maternal allele of UBE3A is lost or mutated, the
result is Angelman Syndrome.

Features

 Laughing paroxysms, excitable


 Hand flapping
 Seizures
 Large mouth, jaw, fair/blonde
 Severe intellectual disability
 Hyperactive
 Jerky “puppet” gait
 Emotionally labile

Management

Multi-disciplinary management, including:

 Skills development
 Family support
 Community engagement

Challenges

 Self-care – daily life harder for families


 Behaviour – ‘terrible twos’ persist
 Safety – kitchens, roads, public places
 Personal hygiene – toileting, menstruation
 Sexuality – masturbation, interests, vulnerability, fertility
 Mental health - boredom, sadness, anxiety

Natural history

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