Paediatrics - Common developmental problems & Failure to Thrive Flashcards

1
Q

Differentiate neurological disorder and neurodisability

A

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

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2
Q

Examples of neurodisability

A

Cerebral palsy, neuromuscular diseases&raquo_space; predominant physical difficulties

Intellectual disorder&raquo_space; learning difficulties

Autism&raquo_space; social communication difficulties

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3
Q

Define neurodevelopmental disorders

Common characteristics of neurodevelopmental disorders

A

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

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4
Q

2 major clinical etiology of childhood intellectual disability

A

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

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5
Q

Define developmental delay

A

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

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6
Q

Define global developmental delay

A

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

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7
Q

Severity score of global developmental delay

A

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

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8
Q

Causes of global developmental delay

A
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9
Q

Outline history taking questions for global developmental delay

A

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

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10
Q

Symptoms/ complaints from history that indicate specialist referral for global developmental delay

A

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

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11
Q

Outline the scope of P/E for global developmental delay

A

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

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12
Q

Signs/ physical abnormalities that indicate specialist referral for global developmental delay /

A

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

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13
Q

Outline approach to global developmental delay

A
  1. History
  2. Examination
  3. 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
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14
Q

First-line investigations for global developmental delay

A

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

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15
Q

Indications for MRI brain for global developmental delay

A

microcephaly, macrocephaly, abnormal head shape
seizures,
abnormal neurological signs

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16
Q

10 most common causes of progressive intellectual and neurological deterioration in children /

A

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)

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17
Q

Management for global developmental delay

A
  • 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)
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18
Q

Definition of IDD (Intellectual Disability Disorder)

A

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

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19
Q

Autism spectrum disorder

  • Age of manifestation
  • Core symptoms
A

Manifests in early childhood

Core symptoms:

  1. 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
  2. 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
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20
Q

Presentations of social communication deficits in autism spectrum disorder

A

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

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21
Q

Presentations of Restricted repetitive behaviours (RRBs) in Autism spectrum disorder

A

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

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22
Q

Associated symptoms/ commodities of Autism spectrum disorder

A

Cognitive comorbidities:
 Intellectual disability
 Language impairment

Behavioral comorbidities: Impulsiuve, aggressive, anxious

Medical comorbidities: Constipation and seizure

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23
Q

Biomarkers of Autism spectrum disorder

A

Ix:
Abnormal EEG
 Developmental macrocephaly
 Neuroimaging: altered brain region size
 Altered immune/ mitochondrial indices
Hyperserotonemia

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24
Q

Genetic disorders/ mutations associated with Autism spectrum disorder

A

 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.

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25
Q

Clinical diagnosis of autism spectrum disorder

A

History of Observed behaviour (most important): best known by parents/ teachers
Give severity scores for core symptoms: Social and communication deficit + repetitive/ restrictive behavior

Mild:
- Social communication: Able to speak in full sentences, but conversation is still difficult
- RRB: Difficult to switch activities
- Need support

Severe:
- Social communication: Speak a few words, rarely interact
- RBB: Extremely resistant to change
- Interferes with daily life, needs substantial support

26
Q

Causes of increasing prevalence of autism spectrum disorders

A

Broadening of diagnostic concepts

 Dx of those in the milder spectrum (important contributing factor)

Increasing awareness including milder cases with normal intelligence

27
Q

Risk factors of autism spectrum disorder

A

Sibling or twins with ASD

Birth history:
Advanced maternal age (>40 yrs) and paternal age (>50 yrs)
Preterm birth (<32 weeks)
 Low birth weight (<1500 g)
SGA/LGA

Childhood vaccinations do not cause autism

28
Q

Cerebral palsy

Definition
Cause
Associated neurological deficits

A

Non-progressive developmental disorders of movement and posture (motor disorders), causing activity limitations

From pre-natal to 3 years old

Often accompanied by:
 Disturbance of sensation (vision, hearing)
 Disturbance of cognition (learning problems)
 Disturbance of communication, perception/ social behavior
 Seizure disorder

29
Q

Types of cerebral palsy

A

Spastic CP - 70-80% (most common)

Dyskinetic CP - 6%

Ataxic CP - 6%

Mixed CP - 8-18%

30
Q

Compare the areas of brain damage and movement characteristics in types of cerebral palsy

A

Spastic CP
- Motor cortex, pyramidal
- Muscles appear stiff and tight
- involvement varies from hemiplegia, diplegia or quadriplegia

Dyskinetic CP
- **Basal ganglia, extrapyramidal involvement **
- Global involvement: involuntary movement, athetoid or dystonic

Ataxic CP
- **Cerebellum, extrapyramidal **
- Global involvement: ataxic, shaky movement with poor balance and proprioception

Mixed CP: mix all types

31
Q

Presentation:
 Stands with crouching, flexed knee
 Jump knee gait, frequent tiptoe, cannot extend knee, gait instability
 Shoulder swaying suggests proximal weakness

Which type of cerebral palsy?

A

spastic diplegic CP

32
Q

Presentation:
 Couldn’t sit by herself – needs to be supported by mother
 Moves whole body instead of selectively move one arm or just the hand

Which type of cerebral palsy

A

spastic dystonic quadriplegic cerebral palsy

33
Q

Presentation:
 Right arm flexed
 Arm swinging decreased on right compared to left

Which type of Cerebral palsy

A

right hemiplegic spastic CP

34
Q

Risk factors of cerebral palsy (same as RF for GDD)

A

Prenatal
 Congenital infection
 Stroke
Congenital malformation

Perinatal
 Birth process-related, e.g. asphyxia, brain injury from traumatic delivery
Prematurity-related, e.g. intraventricular haemorrhage (spastic CP, esp diplegic)
 Severe neonatal jaundice (kernicterus - dyskinetic CP)

Postnatal- Acquired conditions, e.g.:
 Brain infection (meningitis/ encephalitis)
Head injury
 Progressive hydrocephalus
Hypoxic ischaemic injury in near drowning

35
Q

Neurological signs of cerebral palsy in babies

A

Neurobehavioral signs

 Excessive irritability, difficult to handle and cuddle
 Lethargy, sleeps poorly
 Vomits frequently
 Poor visual attention

36
Q

Reflex abnormalities in cerebral palsy

A

persistence of primitive reflex (should disappear within 6-12 months)

Delayed/ absent protective reflex (should be present in all children >12 months of age):
 Sideward parachute reflex (protective extension reaction sideward)
 Forward parachute reflex (protective extension reaction forward)
 Backward parachute reflex (protective extension reaction backward)

ULN signs: Brisk deep tendon reflex, clonus, up-going Babinski

37
Q

Motor deficits in cerebral palsy

A

Initial Hypotonia&raquo_space; Later hypertonia

Poor head control (Increase neck extensor and axial tone to compensate)

Abnormal oromotor patterns (tongue thrusting/ grimacing)

Persistent hand fisting

Delay in:
 Motor development
 +/- other developmental domains

38
Q

Types and age of disappearance for primal reflexes

A
39
Q

Staging system of motor deficit due to cerebral palsy

A

Gross Motor Function Classification System (GMFCS) – 5 different levels/ severity of physical disability

40
Q

Imaging for cerebral palsy

  • Types of imaging
  • Function for each imaging modality
A

CT scan
 Congenital malformation
 Intracranial bleeding
 Periventricular leukomalacia
 Hydrocephalus (gross ventricular dilatation)

MRI scan
 Congenital brain malformation
 Grey and white matter disease
 Cortical dysplasia

Regular X-ray: evaluating health and developmental problems
A. Hip surveillance
B. Spine X-ray for scoliosis
C. Chest X-ray for suspected chronic lung disease

41
Q

Management of feeding problem in cerebral palsy

A

oromotor training
Anti-reflux medication, gastrostomy, fundoplication for reflux
Failure to thrive> Nutritional support

42
Q

Management of respiratory problems in cerebral palsy

A

Medical treatment
Non-invasive ventilation

43
Q

Management of musculoskeletal problems in cerebral palsy

A

Use orthosis
Orthopedic and spinal surgery
Calcium and Vit D supplements

44
Q

Management of motor deficit in cerebral palsy

A

Motor training by physiotherapist
Use rehab equipment
Neuromotor: Botox injection/ casting/ muscle relaxants for hypertonia

45
Q

Management of hearing and vision problems in cerebral palsy

A

Hearing aid, cochlear implants
Glasses
Visual aids and training

46
Q

Management of developmental and mental health problems due to cerebral palsy

A

Early intervention at special schools
Early intervention by psychiatrist

47
Q

Management of family issues due to cerebral palsy

A

Family support centers
Government financial support schemes
Child care support

48
Q

Ddx of deteriorating motor function (e.g. motor impairment, abnormal tone, seizures) in a child with cerebral palsy

A

Neurodegenerative disorder, e.g.:
 Hereditary progressive spastic paraplegia
 Rett syndrome

CNS Tumour, e.g.:
 Brain tumour (e.g. basal ganglia germinoma)
 Spinal cord tumour

nborn error of metabolism/ neurometabolic disorder, e.g.:
 Urea cycle disorder
 Glutaric acidemia type 1
 Aminoacidopathies

Confirm with imaging and genetic studies

49
Q

Red flag signs of Cerebral palsy-like conditions

A

Cerebral palsy like conditions&raquo_space; Regressive motor development

Loss of motor skills
Loss of tone
 Unusual accompanying symptoms (e.g. unexplained hypoglycaemia, recurrent emesis, progressively worsening seizures)
 Family history of unexplained neurological symptoms/ infant deaths

50
Q

Floppy infant

Definition

A

generalized hypotonia, evidenced by:
 Low resistance to passive movement
Unusual posture (e.g. frog-like posture)
High ROM

51
Q

General causes of floppy infant (non - CNS/ PNS causes)

A

Prematurity
Intercurrent illness
Benign hypotonia (well otherwise; diagnosis by exclusion)

52
Q

Peripheral nervous system causes of floppy infant

A

Anterior horn cell disease
 Spinal muscular atrophy
Poliomyelitis

Peripheral neuropathies:
 Hereditary: Charcot Marie Tooth Disease
 Acquired: GBS, toxin, nutritional, metabolic cause

Neuromuscular junction disorder:
Myasthenia gravis
 Congenital myasthenic syndrome

Muscle disease:
 Congenital myopathies
Muscular dystrophies
 Mitochondrial myopathies
Inflammatory myopathies

53
Q

Central nervous system cause of floppy infant

A

Same causes as GDD, CP:
Infection(congenital, e.g. TORCH, acquired), sepsis
 Cerebral malformation
 Neonatal asphyxia
Intracranial haemorrhage

Others:
 Metabolic diseases
 Hypothyroidism
 Spinal cord lesions
 Chromosomal disorders
 Connective tissue diseases
 Drugs (e.g. benzodiazepines)

54
Q

Outline history taking questions for floppy infant

A

Hypotonia symptoms:
 How and when was it first noticed?
 Onset: Acute (infective, trauma cause) vs. subacute vs. chronic (genetic, metabolic cause)
 Progression
 Body parts involved

(the rest is the same as GDD and CP, screen from antenatal > pre-natal > birth > development)
Antenatal history: poor fetal movement, breech, maternal drug use

Birth history: trauma, birth anoxia (suggests central cause), poor Apgar score

Developmental history

Systemic review: feeding difficulties, respiratory problems, seizures

Detailed family history: weakness, parents consanguinity, previous early death or recurrent miscarriages

55
Q

Signs of floppy infant

A

Observation:
1. Need for nasogastric tube, O2 supplementation, ventilation support
2. **Frog-like posture **: hip externally rotated, flexed knee; scissoring posture
CNS cause:
- **Dysmorphic features, abnormal head size and shape, abnormal OFC ** (occipital frontal circumference)

PNS cause:
- Spinal muscular atrophy: **alert face + tongue fasciculation + Bell-shaped chest **
- Congenital myopathy: **ptosis, ophthalmoplegia **

**Paucity of limb movement **: subgravity, antigravity, vs against resistance

56
Q

Outline the 180 degree maneuver for floppy infant signs

A
  1. **Supine (frog-like posture **, antigravity movement: If floppy but strong = more likely due to central cause
  2. → **Pull to sit (head lag) **
  3. → **Sitting (poor head /trunk control **, able to sit unsupported as expected age 6-7mo)
  4. → **Vertical suspension, attempt weight bearing ** (slipping through the hand, lower
    limb scissoring)
  5. → **Ventral suspension (inverted U shape ** – excessive floppiness, LMN signs)
  6. → **Prone **
57
Q

Outline P/E for floppy infant

A

Observation for signs
- **Head size and shape, OFC
- Dysmorphic features
- Syndromal facial features **
- Respiratory pattern
- **Posture and hypotonia
- Paucity of limb movement **

**180o maneuver **

**Neurological exam to localize lesion **: UMN vs LMN lesion

Look for presence of **hepatosplenomegaly/ cardiac failure: **
- Metabolic causes, e.g. Pompe disease (cardiomegaly + hepatomegaly + generalized muscle weakness)
- Zellweger’s disease

58
Q

Typical motor deficit patterns for floppy infant

A

Spinal muscular atrophy: weak proximal muscles, hyporeflexia, tongue fasciculation, alert face

Peripheral neuropathy: Distal muscle weakness, hyporeflexia

MG: Facial weakness mostly, variable ptosis, ophthalmoplegia

Congenital muscular dystrophies: Facial and proximal muscle weakness, hyporeflexia, ptosis

59
Q

Investigations for central nervous system causes of floppy infant

A

 **Karyotype and genetic review (dysmorphism)
 CT/ MRI brain imaging
 TORCH screen **, infective screen
 **Metabolic screen **
– newborn screening, serum amino acid, lactate, ammonia, urine organic acid
 **Thyroid function test **

60
Q

Investigations for peripheral nervous system causes of floppy infant

A

For muscles:
 **Creatine kinase level
 Nerve conduction study (localize the pathology)
 Electromyography
 Muscle biopsy (more invasive) **

**Genetic study ** (getting more popular, can be targeted or panel): e.g.
 SMN1 (spinal muscular atrophy)
 CTG repeats (myotonic dystrophy)
 **Neuromuscular disorder gene panel **