Paediatrics - Common developmental problems & Failure to Thrive Flashcards
Differentiate neurological disorder and neurodisability
Neurological disorders = diseases of the:
Central nervous system (brain, spine)
Peripheral nervous system (nerves)
Muscles
Neurodisability = limitation of activity due to impairment of the central (e.g. brain) and peripheral nervous system
Examples of neurodisability
Cerebral palsy, neuromuscular diseases»_space; predominant physical difficulties
Intellectual disorder»_space; learning difficulties
Autism»_space; social communication difficulties
Define neurodevelopmental disorders
Common characteristics of neurodevelopmental disorders
Group of disorders with disabilities in brain functions that:
Are noticed at birth/ during early childhood
Predominantly affect the individual behaviour, memory, concentration and/or ability to learn
Common characteristics:
Defined to behavior
Tend to run in families
No single biological cause
Male preponderance
2 major clinical etiology of childhood intellectual disability
1) Developmental delay = when a child does not reach their milestones at the expected times
2) Global developmental delay = significant delay (>2 SDs below the mean on age-appropriate standardized tests) in >2 developmental domains
Define developmental delay
when a child does not reach their milestones at the expected times
Can occur in >1 areas:
a) Language – comprehension & expression
b) Motor – gross and fine motor skills
c) Social communication skills
d) Cognition skills
Define global developmental delay
significant delay (>2 SDs below the mean on age-appropriate standardized tests) in >2 developmental domains:
Gross/ fine motor;
Speech/ language;
Cognition;
Social/ personal;
Activities of daily living (the only additional domain from developmental delay)
Reserved for younger children under 5
Severity score of global developmental delay
Severity calculated by developmental quotient (DQ) = developmental age/ chronological age × 100
DQ = 100 = age-appropriate performance
Lower DQ = more severe delay = closer screening and support
DQ > 85 = routine developmental screening
DQ 75-85 = close developmental follow-up and some support
DQ <75 = comprehensive evaluation for early intervention
Causes of global developmental delay
Outline history taking questions for global developmental delay
Family history: 3-generation review for Pre-natal causes
- Previous birth complications: miscarriages, birth defects, infant deaths
- Intellectual disabilities/ GDD/ Neurological conditions
- Genetic conditions, syndrome
- Inborn Errors of Metabolism
- Ethnicity and consanguinity
Prenatal history: infection and drugs
- Full screening for fetal and maternal diseases, infections
- Exposure to teratogenic drugs/ toxins
Birth history: size and complications
- Size at birth, Apgar score
- Length of hospital stay, birth complications (e.g. asphyxiation, IVH, kernicterus)
Psychosocial history: screen for child abuse, psychological deprivation
- Parents background, education, employment
- Parental substance abuse
- Child care arrangements, neglect, abuse
Development: young childhood causes
- Reaching developmental milestones, timing of first visit for neurodisability, diseases during childhood
Symptoms/ complaints from history that indicate specialist referral for global developmental delay
Consider referral to a specialist in metabolic, genetic, neurology if:
Regressive cognitive decline and/or significant change in behavior
Possible/definite seizures
Movement disorder, e.g. dystonia
Recurrent episodes of vomiting, ataxia, seizures, lethargy, coma
Significant sensory decline/ deficit in visual acuity (e.g. cataracts, retinopathy)/ hearing
Family history of IEM, unexplained neonatal/ sudden infant death
Outline the scope of P/E for global developmental delay
Physical exam: Head to toe exam
Growth parameters
Head shape, Fontanelle
Cutaneous stigmata
Spine
Heart abnormalities
Abdomen check for organomegaly
Limb abnormalities
Genital abnormalities
Neurodevelopmental exam:
Neurological exam
Congenital abnormalities
Dysmorphic features
Grade current developmental level
Signs/ physical abnormalities that indicate specialist referral for global developmental delay /
Consider referral to a specialist in metabolic, genetic, neurology if:
Neurocutaneous features
Cardiomegaly
Organomegaly
Musculoskeletal signs: arthrogryposis (joint contractures)
Neurological signs: dystonia, ataxia, chorea, cranial nerve signs, muscle weakness
Cerebral palsy-like picture without a clear cause from history
Multiple congenital anomalies
Coarse/dysmorphic facial features
Vision and hearing exam:
Ocular signs: nystagmus, eye movement disorder, abnormal fundi, cataract
sensorineural deafness
Outline approach to global developmental delay
- History
- Examination
- Formal vision and hearing assessment (must do)
- if exogenous cause suspected: monitor and investigate
- If underlying etiology suspected: Tailor/ selective investigations
- if no clue: 1st line investigations and follow-upA
First-line investigations for global developmental delay
Genetic tests:
- Chromosomal microarray (e.g. Fragile X test for triple expansion of FMR1 gene, Phelan-Dermid syndrome test for SHANK3 deletion)
- Whole exome sequencing
Blood test: normal + TFT, CK, Lead level, Homocysteine, Acycarnitine
- CBC
- Ferritin (IDA,Thal.)
- Renal function test: Urea and electrolytes
- CK (for seizures)
- TFT
- Lead level
- Homocysteine, Acylcarnitine profile
Urine: for metabolites
- Organic acids, Glycosaminoglycans, Oligosaccharides
- Purine, pyramidines
- Creatine/GAA
MRI brain
Indications for MRI brain for global developmental delay
microcephaly, macrocephaly, abnormal head shape
seizures,
abnormal neurological signs
10 most common causes of progressive intellectual and neurological deterioration in children /
NCL late infantile
Mucopolysaccharidosis IIA
Rett syndrome
Metachromatic leukodystrophy
Adrenoleukodystrophy
NCL juvenile
Niemann-Pick type C
Krabbe
GM2 gangliosidosis type 1
GM2 gangliosidosis type 2
(covered in lectures: Fragile X syndrome, Phelan-Dermid syndrome, Angelman syndrome, Tuberous Sclerosis)
Management for global developmental delay
- Ongoing monitoring and support: to Early Intervention Programs and multidisciplinary team training
- Confirm Dx at older age with standardised intellectual assessment
- Monitor for development of IDD (Intellectual Disability Disorder)
Definition of IDD (Intellectual Disability Disorder)
Intellectual disabilities (ID) = learning disorder: significant limitation in both intellectual functioning and in adaptive skills, and fulfil 3 criteria:
1. Deficits in intellectual functions:
E.g. reasoning, problem-solving, planning, abstract thinking, judgment, academic learning and learning from experience
Confirmed by both:
Clinical assessment; and
Individualized, standardized intelligence testing
2. Deficits in adaptive functioning:
Result in failure to meet developmental and socio-cultural standards for personal independence and social responsibility
Without ongoing support
limits >1 activities of daily life (e.g. communication, social participation, independent living) across multiple environments (e.g. home, school, work, community)
3. Onset of intellectual and adaptive deficits during developmental period
Autism spectrum disorder
- Age of manifestation
- Core symptoms
Manifests in early childhood
Core symptoms:
-
Deficit in social communication and social interactions
- deficit in social and emotion reciprocity
- deficit in non-verbal communication
- deficit in developing and maintaining social relationships -
Restricted repetitive behaviours (RBB)/ interests/ activities
- Fixed on certain routines/ excessive resistance to change
- Restricted thinking, fixed interest of abnormal intensity/focus
- Stereotyped/repetitive speech/ motor movements/ use of objects
- Hyper-/ hyposensitivity to sensory input
- Unusual interest in sensory aspect of environment
Presentations of social communication deficits in autism spectrum disorder
Deficit in social and emotional reciprocity
Does not respond to name
Does not share interest in object/activity with others
Weak in the initiation of joint attentions
Deficit in non-verbal communication
Little/no eye contact
Weak in the use and interpretation of non-verbal communications (facial expression, gestural cues)
Deficit in developing and maintaining social relationships
Prefers to be alone
Presentations of Restricted repetitive behaviours (RRBs) in Autism spectrum disorder
Fixed on certain routines
Displays rigidity (e.g. same school route, wear same shoes everyday)
Insistence on sameness (same habit)
Restricted thinking, fixed interest of abnormal intensity/focus
Narrow specific interest (e.g. names of all planet, dinosaurs, MTR stations)
Stereotyped/repetitive speech/ motor movements:
Uses repetitive words/ phrases (echolalia: repeat without understanding)
Lines up toys/ objects in obsessive manner
Weak symbolic play/ inappropriate play with toys
Hyper-/ hyposensitivity to sensory input
Displays self-injurious behaviors
Absence of typical response to pain and physical injury
Motor mannerism: Displays hand flapping (when excited) and/or toe walking; Rocks/ bangs head …etc
Unusual interest in sensory aspect of environment
Associated symptoms/ commodities of Autism spectrum disorder
Cognitive comorbidities:
Intellectual disability
Language impairment
Behavioral comorbidities: Impulsiuve, aggressive, anxious
Medical comorbidities: Constipation and seizure
Biomarkers of Autism spectrum disorder
Ix:
Abnormal EEG
Developmental macrocephaly
Neuroimaging: altered brain region size
Altered immune/ mitochondrial indices
Hyperserotonemia
Genetic disorders/ mutations associated with Autism spectrum disorder
Simple genetic disorders: **fragile X (commonest), TS (tuberous sclerosis), Rett syndrome (girls), Angelman syndrome etc.
Copy number variants (16p11- p12, 15q11-q13, 22q13, etc.)
Rare variants: NRXN1, NLGN4, **SHANK3 (Phelman-Dermid) **, SERT, etc.