PEAD 5-Development Delay Preschool
PEAD 5-Development Delay Preschool
DEVELOPMENTAL DISORDERS
abnormalities in one or more aspects of development, such as verbal, motor, visual-spatial, attentional, and
social abilities
o diagnosed by comparing the child's performance level with norms accumulated from observation and
testing of children of the same age
o Typically problems with motor development and speech present early, but problems affecting
receptivelanguage, socialisation and cognition present late
3–5% of children have developmental delay of at least mild–moderate severity
may remain undiagnosed unless specific assessment is undertaken
often noted by parents when a child does not meet typical motor and language milestones
Developmental disorders may also include difficulties with behaviour or attention
o ADHD is the most common neurodevelopmental disorder → 2–10% of school-aged children
o Mild developmental disorders are often not noted until the child is of school age.
In the assessment of the child, it is important to document adverse psychosocial factors, such as neglect or
poverty, which can negatively influence developmental progress
o Also biologic factors
Clinician role → determine child’s development is significantly aberrant for their age and to determine the
underlyingreasons for this, realising that developmental delay may not have a clearly identifiable medicalbasis
Evaluation
neurodevelopmental evaluation
1. defining the child's level of developmental abilities in a variety of domains, including language,
motor, visual-spatial, attentional, and social abilities
2. attempting to determine the etiology for the child's developmental delays
3. planning a treatment program
Multidisciplinary team→physician, a psychologist, a speech or language therapist, an occupational therapist,
and an educational specialist
o The physician is usually the integrator of the information from the team and must also obtain a
detailed medical and developmental history and conduct the physical and neurologic examinations.
Medical history
o pregnancy, labor, and delivery to identify conditions that might compromise the child's CNS function
prenatal exposures to toxins, medications, alcohol, drugs, smoking, and infections; maternal
chronic illness; complications of pregnancy or delivery; and neonatal course
o Problems such as failure to thrive, chronic illnesses, hospitalizations, and abuse
o Any CNS problems, such as trauma, infection, or encephalitis should be documented.
o metabolic diseases, such as diabetes or phenylketonuria, and exposure to environmental toxins such
as lead
o Chronic diseases such as chronic otitis media, hyper- or hypothyroidism, and chronic renal failure
o presence of motor or vocal tics, seizures, or sleep disturbances should be documented
o parents should be questioned about any motor, cognitive, or behavioral regression.
o child's difficulties with tantrums, poor attention, impulsivity, hyperactivity, or aggression should be
documented.
o detailed history of school-related events should be recorded, including previous special education
support, evaluations through the school, history of repeating grades, difficulties with specific
academic areas, problems with peers, and the teacher's impressions of the child's difficulties
o detailed family history of learning strengths and weaknesses, emotional or behavioral problems,
learning disabilities, mental retardation, or psychiatric disorders
Parental learning strengths and weaknesses, temperament difficulties, or attentional
problems may be passed on to the child. Eg. Dyslexia
Neurodevelopment
o child's growth parameters, including height, weight, and head circumference, need to be assessed,
along with hearing and visual acuity
o dysmorphic features such as epicanthal folds, palpebral fissure size, shape of the philtrum, low-set
or posteriorly rotated ears, prominent ear pinnae, unusual dermatoglyphics (eg, a single palmar
crease), hyperextensibility of the joints, syndactyly, clinodactyly, or other unusual features
o physical and neurologic examination needs to be carried out with an emphasis on both soft and hard
neurologic findings
Visual-motor coordination abilities can be assessed by having the child write, copy designs,
or draw a person
o motor or vocal tics
o Dyspraxia (motor planning difficulties or imitating complex motor movements) and disorders of fine
motor coordination are fairly common
o Tandem walking, one-foot balancing, and coordinating a skip may often show surprising
abnormalities
o Tremors can be noted when watching a child stack blocks or draw.
o expressive language abilities, the examiner should look for difficulties with word retrieval,
formulation, and articulation, and adequacy of vocabulary.
o Throughout the assessment the clinician should pay special attention to the child's ability to focus
attention and concentrate, and to other aspects of behavior such as evidence of depression or
anxiety
Differential Diagnosis
chromosomal: Down syndrome, trisomy 13, trisomy 18
metabolic: Tay-Sachs, PKU, adrenoleukodystrophies
cerebral degenerative: Huntington's chorea, SSPE
prenatal infection: TORCHS, HIV
postnatal infection: meningitis, encephalitis, HIV
toxic agents/drugs: alcohol, street drugs
trauma/hypoxia: birth trauma, intracerebralhemorrhage
other syndromes: cerebral malformations, neurofibromatosis, autism
sensory defects: vision, hearing
Developmental surveillance
PEDS (Parents’ Evaluation of Developmental Status )
o 10 questions based on research of parents’ concerns
o systematicallyelicit parents’ concerns and guide referral decisions
o validated from birth to 8 years
Informal clinical judgement is unreliable as a method for detecting developmental problems
o Milestone checklistsserve as an aid to memory by recording what isexpected of the average child at
each age in several domains of developmental function
often difficult to distinguish thechild with true developmental delay from the normal child
with below-average milestoneattainment
Formal screening tests
o Denver II and the Australian Developmental Screening Test
o objective discrimination of the child who probably has a developmentaldelay from the child who
probably does not
o not definitive
o Bayley Scales of Infant Development and the Griffith’s Developmental Scales
Once suspicion regarding a child’s development has been raised → complete paediatric consultation
o full details of the family, obstetric, neonatal anddevelopmental histories
o Liaison with the GP and a maternal and child health
o history of loss of previously attained developmentalskills is suggestive of regression rather than
delay, and requires more comprehensiveinvestigation to exclude neurodegenerative conditions
o Observation of how the child looks,listens, moves, explores, plays, communicates and socialises is
essential before the formalexamination
Assessment and management may include input from physiotherapists,speech pathologists, teachers,
occupational therapists, psychologists and social workers.
Principles of assessment
These include:
• Utilisation of play as a fundamental assessment tool.
• Promotion of optimal performance of the child.
• Gearing the assessment towards remediation rather than merely producing a profi le.
• Involvement of the parents in the assessment process.
• Close linking of the assessment with services offering help and support.
Early intervention
prevention and early detection of disabilities, as well as health,educational and community services that
assist the child, family and community in adaptingto the child’s developmental needs and disability
aims → minimise the handicapping effects of the child’s disabilityon their development and education, and
to support the family in understanding andproviding for their child’s individual needs
services:
o individual teaching and therapy(speech and occupational therapy)
o family support and counselling
o providing resources andsupport to childcare,preschools and respite care
usually regionally based and are provided by government and non-government agencies
5 Medicare funded allied health consultations perperson, per year by GP referral to obtain private
physiotherapy or speech therapy.
Education
special educational strategies
Paediatricians liaise closely with schools to assist with meeting the child’s educationalneeds.
Family supports
social security benefits
home help and respitecare through foster agencies and community residential units
Intellectual disability
The definition of intellectual disability comprises three elements:
1. a significantly subaverage general intellectual functioning (i.e. 2 standard deviations belowthe mean of
the intelligence quotient) that exists concurrently with
2. deficits in adaptive behaviour, and
3. manifests itself during the developmental period.
Up to 2.5% of children have an intellectual disability: approximately 2% mild and 0.5%moderate, severe or
profound.
Causes
Prenatal
• Chromosomal; e.g. trisomy 21, fragile X syndrome and velocardiofacial syndrome (22q11-deletion
syndrome).
• Genetic; e.g. tuberous sclerosis and metabolic disorders.
• Major structural anomalies of the brain.
• Syndromes; e.g. Williams, Prader–Willi, Rett.
• Infections; e.g. cytomegalovirus.
• Drugs; e.g. alcohol.
o children of low birthweight are at risk for intellectual disability: the lower thebirthweight, the greater the risk.
Perinatal
• Infections.
• Trauma.
• Metabolic abnormalities.
Postnatal
• Head injury.
• Meningitis or encephalitis.
• Poisons.
Presentation
• At birth with a known syndrome or malformation.
• At follow-up in high-risk infants.
• Language delay.
• Global developmental delay.
• Learning difficulties.
• Behaviour problems.
• With associated medical complications (e.g. epilepsy).
A biological cause for moderate, severe and profound intellectual disability can be identifiedmore readily
than in those with a mild intellectual disability.
In disability requiring extensivesupport, a cause may be identified in up to 2/3 of cases.
In people with mild intellectualdisability, the cause is identifiable in <20% of individuals.
Where a cause is identified,the majority are caused by problems during the prenatal period with 10% due to
perinataland 5% due to postnatal insults.
The three most common identifiable causes of intellectualdisability are trisomy 21, fragile X syndrome and
velocardiofacial syndrome.
Investigations
It is important to establish aetiology where possible in order to understand prognosis, providegenetic counselling
and to ensure that associated problems are detected.
The following investigations should be considered:
• Chromosomes, especially for fragile X, William and Prader–Willi syndromes using DNAprobes and FISH for
22q11-deletion.
• MRI of the brain.
• Creatinine phosphokinase in boys (for neuromuscular disorders).
• Plasma amino acids.
• Urinary organic and amino acids.
• Thyroid function tests.
• Mucopolysaccharide screen.
• Investigation for congenital infection: ophthalmological and audiological examination,maternal/infant
serology and viral culture (cytomegalovirus).
Despite thorough investigation, the cause is often not identified.
Management
• Support and information for parents.
• Referral to and liaison with other practitioners, early intervention, family support andeducational services.
• Child advocacy.
• Regular assessment of vision and hearing.
• Investigation for associated anomalies (e.g. cardiac and thyroid status with trisomy 21).
• Treatment of associated disorders (e.g. epilepsy).
• Monitoring of development.
LANGUAGE DELAY
Differential Diagnosis
hearing impairment
o not responsive to sounds out of sight
o prelinguistic skills (e.g. cooing, babbling) may initiallydevelop normally but may decrease due to lack
of feedback
o no impairment in social interaction
o causes
o genetic (30-50%)
o congenital infection (e.g. rubella, CMV)
o meningitis
o ototoxic medications (e.g. aminoglycosides)
cognitive disability
o global developmental delay, mental retardation
o both receptive and expressive language components affected
o child often has interest in communication
pervasive developmental disorder (including autism)
o poor social interaction and language impairment, especially expressive
selective mutism
o only speaks in certain situations, usually at home
o usually starts at age 5-6 years when child goes to school
o healthy children with no hearing impairment
o often above average intelligence
Landau-Kleffner syndrome (acquired epileptic aphasia)
o presents in late preschool to early school age years
o child begins to develop language normally, then suddenregression of language
o child has severe aphasia with EEG changes
o often has overt seizure activity
o initial presentation may be similar to autism
mechanical problems
o cleft palate
o cranial nerve palsy
social deprivation
autism
o prevalence M:F = 4:1
o risk in sibling 8-9%
o onset prior to 3 years of age
Asperger’s syndrome
o prevalence M>F
o impaired social interaction
o language and cognition better than in autism
o restricted, repetitive, stereotyped patterns of behaviour,interests and activities
o better prognosis than in autism
PDD
spectrum of disorders
o Include: autistic disorder, Asperger’s syndrome and atypical autism
o behavioral phenotype
Diagnosis:
o Presence of 3 core features by 3 years of age:
Qualitative impairment of social interaction.
Qualitative impairment in communication.
Restricted, repetitive and stereotyped patterns of activities, behaviour and interests.
o No singletest for autism spectrum disorders
Made by a multidisciplinaryteam of a paediatrician/child psychiatrist, speech pathologist and
psychologist
Asperger’s syndrome
Normal intelligence (although it may range from borderline to superior).
No obvious delay in language development .
Impaired social and communication skills with an egocentric approach to others.
Social immaturity.
A narrow range of obsessional interests (such as knowledge of sporting statistics, astronomy, public
transport systems).
Lack of common sense.
Common co-morbidities
Anxiety disorders
• Obsessive compulsive disorder occurs in about 25% of people with Asperger’s syndrome.
• Post-traumatic stress disorder.
• School refusal.
• Selective mutism.
• Social anxiety disorder.
Depression
Up to 1/3 of children and adults with Asperger’s syndrome are clinically depressed.
Management
Specific educational, behavioural and supportive psychological and psychotherapeutic treatments are used.
Teaching social skills and friendship skills, emotion education and management. Monitor co-morbidities
Rett Syndrome
autism spectrum disorder
o considering removal in DSM-5
neurodevelopmental disorder of the grey matter of the brain
o almost exclusively affects females
Clinical features
o small hands and feet
o deceleration of the rate of head growth
o Repetitive hand movements, such as wringing and/or repeatedly putting hands into the mouth
o prone to gastrointestinal disorders
o up to 80% have seizures
o no verbal skills typically
o 50% of individuals affected are not ambulatory
o Scoliosis, growth failure, and constipation also very common
DDx include → Angelman syndrome, cerebral palsy and autism.
Cause
o caused by mutations in the gene MECP2 located on the X chromosome, and can arise sporadically or
from germline mutations
o Diagnosed by a clinical observation, and in some very rare cases, no known mutated genes can be
found.
Development
o Development appears to be normal until 6–18 months, followed by period of developmental
stagnation followed by a developmental regression where language and motor milestones regress,
purposeful hand use is lost, and acquired deceleration in the rate of head growth (resulting in
microcephaly in some) is seen
Hand stereotypes are typical, and breathing irregularities such as hyperventilation,
breathholding, or sighing are seen in many
o Early on, autistic-like behavior may be seen
During regression, some features are similar to those of autism.
Similar to autism signs:
screaming fits
inconsolable crying
avoidance of eye contact
lack of social/emotional reciprocity
markedly impaired use of nonverbal behaviors to regulate social interaction
loss of speech
sensory problems.
Similar to cerebral palsy:
possible short stature
hypotonia
delayed or absent ability to walk
gait/movement difficulties
ataxia
microcephaly in some - abnormally small head, poor head growth
gastrointestinal problems
some forms of spasticity
chorea - spasmodic movements of hand or facial muscles
dystonia
bruxism – grinding of teeth.
o Signs may stabilize for many decades, particularly for interaction and cognitive function such as
making choices
o Asocial behavior may change to highly social behaviour
Management
o management of gastrointestinal (reflux, constipation) and nutritional (poor weight gain) issues
o Surveillance of scoliosis and long QT syndrome
o increasing the patient's communication skills, especially with augmentative communication
strategies
o parental counseling
o modifying social medications
o sleep aids
o selective serotonin reuptake inhibitors (SSRIs)
o anti-psychotics (for self-harming behaviors)
o beta-blockers rarely for long QT syndrome
o occupational therapy, speech therapy and physical therapy (for children with Rett syndrome).
Mortality
o Males with pathogenic MECP2 mutations usually die within the first 2 years from severe
encephalopathy
o Females can live up to 40 years or more
FRAGILE X SYNDROME
most common inherited cause of ID/MR
o caused by a trinucleotide expansion (CGG repeated sequence) within the fragile X mental
retardation I (FMR1) gene
The normal population includes 5–50 repeats, permutation carriers have 54-2000 (but
unaffected)
Women with the premutation have a higher incidence of premature ovarian failure,
anxiety, and mild facial dysmorphisms
o seemingly unaffected females can pass an expansion of the CGG repeat to
the next generation
Males with the premutation are at risk for developing fragile X tremor ataxia
syndrome (FXTAS).
Approximately 1 in 250 women and 1 in 700 men in the general population are premutation
carriers
When a premutation of more than 90 repeats is passed on by a female to her
offspring, it will expand to a full mutation (more than 200 repeats) 100% of the time,
which usually causes ID/MR or learning disabilities
o Individuals with ID/MR of unknown origin should receive FMR1 DNA testing
Significant learning and emotional problems.
Symptoms
o ID/MR
o Shyness, social anxiety, and learning problems
o Gender variation
Girls are usually less affected by the syndrome because they have a second X chromosome
that is producing FMR1 protein
70% of girls with the full mutation have cognitive deficits in addition to emotional
problems, such as mood lability, ADHD, anxiety, and shyness
Approximately 85% of males with the syndrome have ID/MR and autistic-like
features, such as poor eye contact, hand flapping, hand biting, and tactile
defensiveness
o About 20% of fragile X males meet the criteria for autism.
o As the boys move into puberty, macro-orchidism develops
o Childs face may also grow longer in puberty
o Cognitive and language delays, hyperactivity, and difficult behavior in early childhood
o 70% have prominent ears and hyperextensible finger joint
diagnosis must be suspected because of behavioral problems and developmental delays alone
Management
o Speech and language therapy
o Occupational therapy
o behavioral psychologist
o Psychopharmacology can also be useful to treat ADHD, aggression, anxiety, or severe mood
instability
Clonidine or guanfacine may be helpful in low doses, beginning in the preschool period to
treat hyperarousal, tantrums, or severe hyperactivity
Stimulant medications such as methylphenidate (Ritalin) and dextroamphetamine (Adderall)
are usually beneficial by age 5 years and occasionally earlier
Anxiety → SSRI
o genetic counselling
Female carriers have a 50% risk of having the fragile X mutation
Male carriers are at risk for developing FXTAS, a neurodegenerative disorder, as they age
Ritalin (Methylphenidate)
Also used in postural orthostatic tachycardia syndrome and narcolepsy
increases the levels of dopamine and norepinephrine in the brain throughreuptake
inhibition of the respective monoamine transporters
o structural and pharmacological similarities to cocaine
o ↑ or maintains alertness, combating fatigue, and improving attention
Not approved <6 years age
Long-term effects largely unknown
Side effects
o most common side effects of methylphenidate are nervousness, drowsiness
and insomnia
Others: abdominal pain, appeittite loss, anxiety, cardiac arrhythmia,
dizziness, angina, hypersentivity reaction, headaches, lethargy,
nausea, palpitations, stunted growth, tachycardia etc
o Possible long term psychosis (hallucinations)
Tolerance and behavioural sensitisation may occur with long-term
Special precaution is recommended in individuals with epilepsy
o Other medications
Atomoxetine, a selective noradrenaline reuptake inhibitor, which is given once daily
Clonidine, which can help smooth out explosive behaviour and assist with sleep onset
Antidepressants (tricyclics, SSRI, SNRI) are particularly beneficial if there is associatedanxiety
Other strategies
o unproven complementary therapies
behavioural optometry, cerebellar training exercises, chiropractic, etc
o elimination of synthetic food colourings and preservatives is beneficialin a small number of children
Prognosis
Most children with ADHD will continue to have some difficulties through adolescence andinto adulthood
many develop good compensating strategies and function very well
significant minority suffer long-term complications including academic underachievement, school drop-out,
delinquency, vocational disadvantage and relationship difficulties
with stimulant medication appear to be less likely to develop substance abuse in adolescence and adult life
than those left untreated.