Global Developmental Delay Flashcards
(36 cards)
1
Q
Global developmental delay: definition (4)
A
- A significant delay in 2 or more developmental domains
- 5 areas of development: Gross/fine motor, speech/language, cognitive, social/personal, activities of daily living
- Those 5 and older are usually assessed by IQ testing, which identifies intellectual disabilities
- Usually reserved for children younger than age 5 years
2
Q
What is the next step when delay is suspected? (4)
A
- Family history, including parent developmental history and function
- Review risk factors such as prematurity, co‐ occurring medical illnesses
- Confirm newborn screening results
- Formal hearing and vision evaluations
3
Q
What tests should be done with neurological signs? (4)
A
- Brain MRI
- CK levels
- TSH
- Free T4
4
Q
What tests should be done without neurological signs? (2)
A
- Array CGH
2. Fragile X
5
Q
What tests should be done with regression or metabolic disturbance? (3)
A
- Amino Acid
- Organic Acid
- Others
6
Q
Neuromotor examination: observe quality and type of movements (8)
A
a. Cranial nerve
b. EOM, papillary reactivity
c. Red reflex
d. Facial expression
e. Smiling and crying
f. Oromotor movement
g. Tongue fasciculations
h. Quality of shoulder shrug
7
Q
Neuromotor examination: observe strength (4)
A
- Observe symmetry while tripod sitting with symmetrical posture observe walking and then running, climbing, hopping, and skipping in the older child
- Use of a Gower maneuver, characterized by an ambulatory child’s inability to rise from the floor without pulling or pushing up with his arms.
- Muscle bulk and texture, joint flexibility, and presence or absence of atrophy should be observed.
- Quality and intensity of grasp is most easily assessed by observation during play
8
Q
When do you do neuromotor examinations?
A
9, 18, 34 and 39 months
9
Q
What Are the Red Flags in AAP Policy? (8)
A
- Elevated Creatine Kinase three times normal
- Do TSH/free T4 to rule out thyroid myopathy
- Fasciculations:
a. Motor Neuron diseases
b. Spinal Muscular Atrophy - Facial Dysmorphia, joint contractures, heart failure, organomegaly
a. Mucopolysaccharidosis - Respiratory insufficiency and generalized weakness
a. SMA type 1 requiring admission - Motor delays present during minor illness
a. May indicate mitochondrial disease - Loss of milestones indicates a neurodevelopmental disease
a. SMA, Retts syndrome - Mitochondrial disease is best picked up when the child gets sick
10
Q
Dysmorphology exam (3)
A
- Yield is from 40 to 80%
- Many disorders are readily identified by primary care providers—Down syndrome, FAS, Neurofibromatosis
- Major malformations/minor anomalies/ growth deficiency help to make diagnosis
11
Q
Normal Phenotypic Variant (8)
A
- Saddle (mildly upturned nose)
- Mild to moderate in bowing of lower leg Sacral dimple, not deep
- Mild syndactyly of second and third toes
- Toenail hypoplasia in the newborn
- Hydrocele of the testicle
- Epicanthal folds
- Unilateral epicanthal fold is indicative of torticollis Slanting of the palpebral fissures
- Brushfield spots (20% of normal newborns)
12
Q
Minor Anomalies of the Face (11)
A
- Synophrys; Fused eyebrows
- Flat bridge of nose
- Hypotelorism
- Anteverted nostrils
- Epicanthal fold
- Iris freckles
- Upward palpebral slant (mongoloid slant)
- Downward palpebral slant (antimongoloid slant)
- Blue sclera
- Epicanthal folds
- Different eye colors
13
Q
Minor Malformations (3)
A
- Circular pattern of hair (cowlick)
- Kinky hair, brittle hair including eyebrows.
- Hair patterning
a. Look for unusual hair pattern Low set hair line
b. Widow’s peak
c. Webbed neck
14
Q
Minor Anomalies of the Auricular Region (8)
A
- Large ears
- Lop ear
- Lack of lobulus
- Lobe crease
- Thick helix or attached to scalp
- Protruding ears (due to lack of development of the posterior auricular ear muscle
- Low set ears
- Ears slanted greater than 15 degrees from the perpendicular
15
Q
Minor Anomalies of the Hand (6)
A
- Clinodactyly
- Syndactyly
- Hypoplastic
- Asymmetric length
- Camptodactyly; Contractures of the fingers
- Malportion or disharmony in the length of particular segment of the hand
16
Q
Minor Anomalies of the Feet (6)
A
- Asymmetric length of toes
a. Ex: big space between first and second toe - Clinodactyly of second toes with overlapping
- Syndactyl
- Short broad toenail
- Deep crease between hallux and second toe
- Wide gap between hallux and second toe
17
Q
Major Anomalies (5)
A
- CNS Anencephaly/Meningomyelocele Dandy ‐ Walker malformation
- Agenesis of the corpus callosum
a. Will have global developmental delay
b. Problems learning
c. Diffuclt retrieving information - Hydrocephalus
a. Microcephaly
b. Macrocephaly craniosynostosis - Occiput/flat or prominent
- Delayed Closure of Fontanel Anomalies
18
Q
Major Malformations (9)
A
- Anencephaly
- Absence of brain development
- Absence of dermal covering
- Major Eye Finding; Coloboma of the iris
- Cleft Palate
- Cardiac defects
- Pulmonary defects
- Abdominal; Abdominal wall defects, Kidney Malformation, Anorectal defects
- Rocker bottom feet/curved foot
19
Q
Major Anomalies of Genitalia (5)
A
- Ambiguous genitalia
- Hypospadias and bifid scrotum
- Micropenis
- Vaginal atresia
- Unusual Growth Patterns
20
Q
Global Development Delays and Cardiac Defects (4)
A
- Alagille Syndrome (pulmonary branch stenosis)
a. Chief presentation: well appearing child with mild icteric skin and high bilirubin (3-5) - Noonan/Cardio‐facio‐cutaneous syndrome (pulmonic stenosis)
a. Check chromosome 22 with cardiac disease
i. Deletion seen with micro-array - Williams syndrome (supravalvular aortic stenosis)
a. Marked developmental delays and stenosis - DiGeorge Syndrome/Velocardiofacial/22q11.2 deletion
a. Wide variety of presentation
b. Immune deficiency, hypothymic dysplasia, or may not be very sick
21
Q
Tuberous Sclerosis (2)
A
- Two different types with presentation variety
- Problems with the brain so will see seizures, marked developmental delay and may have problems with long-term memory loss
* Think about corpus collosum with the memory loss
* Partial agenesis of corpus collosum; main role is to transfer things from right to left side of brain where long-term memory is
22
Q
Sturge Weber Syndrome
A
Erythematous mark on one side of face and glaucoma in affected eye
*Newborn period will have large, teary pupil
23
Q
Linear Sebaceous Nevi syndrome (2)
A
- Developmental delay
- Isolated sebaceous nevi
i. On scalp: nevi of Johansson; higher predilection of cancer if on scalp
* Nevi of Johansson itself is not associated with developmental delay
* Nevi grow in early adolescence
24
Q
Metabolic Screening (3)
A
- Few studies with standardized protocol
- For children in special schools and institutions abnormalities are around 1%
- Higher yield if regression, cardiomyopathy, hepatosplenomegaly, or eye findings
a. Cardiac disease, liver failure, not developing adequately due to abnormal substances in the brain
b. Cataracts are a big eye finding
i. Mucopolysacharides
25
Global Developmental Delay and Regression (6)
1. Storage Disorders are primary considerations
2. Lysosomal storage disorders are most likely
3. Abnormal imaging with leukodystrophy
4. Unusual appearance: mucopolysaccharidosis
5. Ocular finding of cherry red spot of the macula: Tay‐Sachs Disease *****
6. Refer to neurology and eye clinic with every child with a developmental delay
26
Neuroimaging (3)
1. 15% abnormal if performed on selected groups
2. 40% if there is an abnormal finding on exam—focal neuro exam, possible phakomatosis
3. Etiologic yield not just an abnormal image) is 1% to 2 % in unselected series
a. Higher in more severely delayed
b. MRI is more sensitive but is more difficult than CT for young children to tolerate
i. MRI will show periventricular leukomalacia which indicates CP
c. Brain abnormalities have been identified in about 30% of all studies
27
Neurological Studies for Specific Disorders (4)
1. Motor dysfunction: CK for Muscular dystrophy (liver enzymes will be abnormal)
2. Ataxia: Alpha Fetoprotein for ataxia telangiectasia or gene specific testing for Freidreich’s ataxia
3. Spasticity: Hereditary spastic paraplegia
4. Peripheral neuropathy: Charcot Marie Tooth
a. CMT → physical therapy, px contractures, no pharmacotherapy
28
15q13.3 Microdeletions (4)
1. Reported in over 100 patients with a variety of DD phenotypes
2. Often present in a parent and/or siblings, who have development disabilities
3. Present in increased frequency in individuals with schizophrenia
4. Appears to represent a susceptibility locus
29
Fragile X (7)
1. Long appearing face
2. Prominent ears
3. Increased height, weight
4. Macroorchidism; Very large testicles
5. Joint hyperextensibility; Hypermobility*
6. Molecular investigation detects an abnormality in 1‐2% of unselected individuals with DD
7. Higher rate of detection with more severe DD, X‐linked family history or phenotypic features
30
Chromosome Analysis (2)
1. Yield by inclusion or exclusion of trisomies 21, 18, and 13 in case series
2. Indicated were diagnosis is highly likely such as Down syndrome, family history of chromosome abnormalities or history of multiple miscarriage
31
Evaluation of Global DD (7)
1. ACGH in all who have no recognizable phenotype, neurological signs or metabolic features
2. Fragile X molecular studies in all who receive aCGH
3. CPK, liver functions, FREE T4, TSH in all children with motor delays
a. Micro-array is first line test though
4. Metabolic studies if organomegaly, regression, multi‐ organ effects
5. Amino acid and organic acid
6. Neurological evaluation for occipital frontal cortex, abnormal funduscopic, abnormal neurological exam, possible phakomatosis (neuro‐oculo‐cutaneous syndromes, neurocutaneous disorders)
7. Muscular dystrophy may have abnormal liver functions and abnormal CK
32
Genetic Evaluation of Autism: Recognized Syndrome (4)
1. Angelman syndrome
2. Fragile X syndrome
3. Rett syndrome
4. Tuberous sclerosis
33
American College of Medical Genetics: Clinical Genetic evaluation: Tier 1 Evaluation (3)
1. Array CGH (10%)
2. Fragile X DNA analysis for males only (2‐5%)
3. Metabolic or mitochondrial testing if clinical indicators are present
* Mitochondrial testing should always be done if the mother reports the child is worse when they are sick *hallmark of mitochondrial disease
34
American College of Medical Genetics: Clinical Genetic evaluation: Tier 2 Evaluation (3)
1. MECP2 (Rett syndrome) gene testing in females (4% of females with developmental delay)
2. MECP2 duplication testing in males if phenotype suggestive PTEN if OFC >2.5 SD (5%)
3. Brain MRI for specific indicators (microcephaly, seizures, etc.)
35
Mitocondrial Dysfunction and ASD (4)
1. Link between mitochondrial dysfunction and Autism
2. Persons with autistic behaviors and loss of speech after a febrile illness or immunization with subsequent encephalopathy. → suspect mitochondrial disease
3. Constitutional symptoms, hypotonia, repeated regressions after the age of 3 years
4. Multiple organ dysfunctions are clues to consider mitochondrial disease
36
Clinical Symptoms of Mitochondrial Disorders (12)
1. Acid/base or electrolyte disturbances
2. Anemia with an elevated mean corpuscular volume
3. Cyclic vomiting
4. Dermatologic changes: alopecia, hypertrichosis, and pigmented skin eruptions
5. Developmental regression associated with illness or fever
6. Gastrointestinal dysfunction, gastroparesis
7. Hypotonia/dystonia
8. Lactic acidosis
9. Lethargy
10. Multisystem involvement, especially cardiac, hepatic, or renal (physical and/or laboratory evidence)
11. Neurodegeneration outside of the typical ASD speech loss at 18–24 months
12. Poor growth, microcephaly Seizures
