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Paeds: Child Development > Global developmental delay > Flashcards

Global developmental delay Flashcards

1
Q

What are 3 features that may suggest neurodevelopmental concerns prenatally?

A
  1. Positive family history e.g. affected siblings or family members, ethnicity, e.g. Tay Sachs disease in Jewish parents
  2. Antenatal screening tests e.g. ultrasound including nuchal thickness, triple blood test or non-invasive prenatal testing - Down syndrome, neural tube defects e.g. spina bifida and hydrocephalus
  3. Amniocentesis for supected genetic disorders
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2
Q

What are 4 features that may suggest neurodevelopmental concerns perinatally?

A
  1. Following birth asphyxia/neonatal encephalopathy
  2. Preterm infants with intraventricular haemorrhage / periventricular leucomalacia, post-haemorrhagic hydrocephalus
  3. Dysmorphic and neurocutaneous features
  4. Abnormal neurological behaviour - tone, feeding, movement, seizures, visual inattention
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3
Q

What are 4 things in infancy that could suggest neurodevelopmental delay?

A
  1. Global developmental delay
  2. Delayed or asymmetric motor development
  3. Neurocutaneous and dysmorphic features (cataracts)
  4. Vision or hearing concerns by parents or after screening
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4
Q

What are 4 things in preschool age that could suggest neurodevelopmental delay?

A
  1. Speech and language delay
  2. Abnormal gait, clumsy motor skills
  3. Poor social communication skills
  4. Behaviour - stereotypical, overactivity, inattention
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5
Q

What are 6 things in school age that could suggest neurodevelopmental delay?

A
  1. Problems with balance and coordination
  2. Learning difficulties
  3. Attention control
  4. Hyperactivity
  5. Specific learning difficulties e.g. dyslexia, dyspraxia
  6. Social communication difficulties
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6
Q

What are 2 features that could suggest neurodevelopmental concerns at any age?

A
  1. Acquired brain injury e.g. after meningitis, head injury
  2. Loss of skills
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7
Q

When examining a child with possible developmental problems what are 4 key things to remember?

A
  1. Ask the parent what child’s abilities are by starting at a level below what child of that age expected to be able to do
  2. use toys: cubes, ball, car, doll, pencil, paper, pegboard, miniature toys, picture book (9)
  3. assess to a short level above what they appear able to do, in order to establish ceiling of skill for each developmental area
  4. at end, should be able to describe what child able to do and what cannot do. what is within normal range and what is outside
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8
Q

What are 9 clinical things that may guide investigation for development?

A
  1. Patterns of growth: height, weight, head circumference with centile plotting
  2. Dysmorphic features: face, limbs, body proportions, cardiac, genitalia
  3. Skin: neurocutaneous stigmata, injuries, cleanliness
  4. Central nervous system: posture/symmetry, wasting, tone and power, reflexes, clonus, plantar responses, cranial nerves
  5. Cardiovascular
  6. Visual and ocular
  7. Hearing
  8. Patterns of mobility, dexterity, hand dominance, communication and social skills, general behaviour
  9. Cognition
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9
Q

What is the definition of delay?

A

Slow acquisition of all skills (global delay) or of one particular field or area of skill (specific delay), particularly in relation to developmental problems in the 0-5 year age group

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10
Q

What is the definition of learning difficulty?

A

Used in relation to children of school age and may be cognitive, physical, both or relate to specific functional skills

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11
Q

What is the definition of a developmental disorder?

A

Maldevelopment of a skill

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12
Q

What is the definition of developmental impairment?

A

Loss of abnormality of physiological function or anatomical structure

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13
Q

What is the definition of developmental disability?

A

Any restriction or lack of ability due to the impairment

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14
Q

What is the definition of developmental disadvantage?

A

Results from the disability, and limits or prevents fulfilment of a normal role. Situationally specific; child with learning disability may by a good skier or enjoy swimming

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15
Q

What is the difference between learning difficulty and learning disability?

A

Difficulty is used particularly in an educational context

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16
Q

What are 3 categories of types of abnormal development?

A
  1. Slow but steady
  2. Plateau effect
  3. Showing regression: acute (e.g. following acute brain injury with slow recovery but not to normal levels) or slow regression (neurodegenerative disorders)
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17
Q

What are 4 degrees of severity of abnormal development?

A
  • mild
  • moderate
  • severe
  • profound
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18
Q

What happens for children with abnormal development as they grow older?

A

Gap between their abilities and what is normal widens with age

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19
Q

What is another name for global developmental delay?

A

Early developmental impairment

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20
Q

When does global developmental delay usually become apparent?

A

First 2 years of life

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21
Q

What are 4 groups of conditions that can cause abnormal development and learning difficulty?

A
  1. Prenatal
  2. Perinatal
  3. Postnatal
  4. Other
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22
Q

What are 6 types of prenatal causes of abnormal developmental and learning difficulty?

A
  1. Genetic
  2. Cerebrovascular
  3. Metabolic
  4. Teratogenic
  5. Congenital infection: rubella, cytomegalovirus, toxoplasmosis, HIV
  6. Neurocutaneous syndromes: tuberous sclerosis, neurofibromatosis, Sturge-Weber, Ito syndrome
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23
Q

What are 7 genetic prenatal causes

A

Chromosome/DNA disorders

  1. Down syndrome
  2. Fragile X syndrome
  3. Chromosome microdeletions or duplications

Cerebral dysgensis

  1. microcephaly
  2. absent corpus callosum
  3. hydrocephalus
  4. neuronal migration disorder
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24
Q

What is a key prenatal cerebrovascular cause of abnormal development and learning difficulty?

A

Stroke - haemorrhagic or ischaemic

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25
Q

What are 2 examples of prenatal metabolic causes of abnormal development and learning difficulty?

A

Hypothyroidism, phenylketonuria

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26
Q

What are 2 examples of prenatal teratogenic causes of abnormal development and learning difficulty?

A

Alcohol and drug abuse

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27
Q

What are 4 examples of congenital infections that can cause abnormal development and learning difficulty?

A
  1. Cytomegalovirus
  2. Rubella
  3. Toxoplasmosis
  4. HIV
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28
Q

What are 4 examples of neurocutaneous syndromes that can cause abnormal development and learning difficult prenatally?

A
  1. Tuberous sclerosis
  2. Neurofibromatosis
  3. Sturge-Weber
  4. Ito syndrome
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29
Q

What are 3 perinatal causes of abnormal development/ learning difficulty?

A
  1. Extreme prematurity: intraventricular haemorrhage/ periventricular leucomalacia
  2. Birth asphyxia - hypoxic-ischaemic encephalopathy
  3. Metabolic: symptomatic hypoglycaemia, hyperbilirubinaemia
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30
Q

What are 6 groups of postnatal causes of abnormal development and learning difficulty?

A
  1. Infection - meningitis, encephalitis
  2. Anoxia - suffocation, near drowning, seizures
  3. Trauma - head injury: accidental or non-accidental
  4. Metabolic - hypoglycaemia, inborn errors of metabolism
  5. Cerebrovascular - stroke
  6. Nutritional deficiency - maternal deficiency (breast fed), food intolerances, restrictions
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31
Q

What are 2 postnatal infective causes of abnormal development and learning difficulty?

A
  1. Meningitis
  2. Encephalitis
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32
Q

What are 3 examples of causes of anoxia postnatally that can cause abnormal development and learning difficulty?

A
  1. Suffocation
  2. Near drowning
  3. Seizures
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33
Q

What are 2 examples of metabolic postnatal causes of abnormal development and learning difficulty?

A
  1. Hypoglycaemia
  2. Inborn errors of metabolism
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34
Q

What is a cerebrovascular postnatal cause of abnormal development and learning difficulty?

A

Stroke

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35
Q

What are 3 examples of causes of nutritional deficiencies that can cause abnormal development and learning difficulty postnatally?

A
  1. Maternal deficiency if breast fed
  2. Food intolerances
  3. Restrictions
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36
Q

What are 4 ‘other’ causes of abnormal development and learning difficulty (outside prenatal/perinatal/postnatal)?

A
  1. Unknown - 25%
  2. Chronic illness
  3. Physical abuse
  4. Emotional neglect
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37
Q

What are 7 groups of investigations or assessment to consider for developmental delay?

A
  1. Cytogenetic: comparative genomic hybridzation microarray or chromosome karyotype. Fragile X analysis
  2. Metabolic: TFTs, LFTs, bone chemistry, U+Es, plasma amino acids, blood film, CK, blood lactate, very long-chain fatty acids, ammonia, etc. etc.
  3. Infection: congenital infection screen for CMV etc.
  4. Imaging: cranial US in newborn, CT and MRI brain scans. Skeletal survey, bone age
  5. Neurophysiology: EEG for seizures, can be diagnostic for some neurological disorders and syndromes. Nerve conduction studies, EMG, visual evoked potentials, electroretinogram
  6. Histopathology/ histochemistry: nerve, skin and muscle biopsy
  7. Other: hearing, vision, clinical genetics, cognitive and behavioural assessment, therapy assessment, child psychiatry, dietician, nursery/ school reports
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38
Q

What is the pathophysiology of Down syndrome?

A
  • Trisomy 21
  • 95% due to non-disjunction (47 XY or XX, +21)
  • 5% due to Robertsonian translocation, with 21q attaching to chromosome 14 (46XY or XX, t(14q21q)
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39
Q

What is the incidence of Down syndrome?

A

Affects 1/100 births by age 40

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40
Q

What are 6 groups of symptoms of Down syndrome?

A
  1. Facial appearance
  2. Hands and feet
  3. Musculoskeletal - hypotonia, flexible ligaments
  4. Associated problems - cardiac, GI
  5. Later in life: short stature, learning difficulties, visual/hearing problems
  6. Other diseases
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41
Q

What are 8 facial features of Down syndrome?

A
  1. Round face
  2. Flat occiput
  3. Short neck
  4. Flat nose
  5. Upslant eyes
  6. Small ears
  7. Small mouth
  8. Protruding tongue
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42
Q

What are 3 hands and feet features of Down syndrome?

A
  1. Single palmar crease
  2. Incurved 5th finger
  3. Sandal gap
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43
Q

What are 2 musculoskeletal problems in Down syndrome?

A
  1. Hypotonia
  2. Flexible ligaments
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44
Q

What are 4 problems commonly associated with Down syndrome (cardiac and GI)?

A
  1. Atrioventricular septal defect
  2. Ventricular septal defect
  3. Duodenal atresia
  4. Hirschprung’s disease
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45
Q

What are 4 problems associated with Down syndrome later in life?

A
  1. Delay motor milestones (global delay)
  2. Short stature
  3. Moderate to severe learning difficulties
  4. Vision/hearing problems
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46
Q

What are 6 diseases associated with Down syndrome?

A
  1. Early dementia
  2. Infection risk
  3. Hypothyroidism
  4. Coeliac
  5. Epilepsy
  6. Leukaemia
47
Q

What are 2 ways to diagnose Down syndrome?

A
  1. Quantitative fluorescence PCR (rapid)
  2. Karyotyping
  3. Downs specific growth chart for plotting height and weight
48
Q

What is the prognosis of Down syndrome?

A
  • heart defects major killer, 85% survive to 1 year
  • 50% survive to 50 years though often develop dementia around this time
49
Q

What are the 12 biggest causes of global developmental delay?

A
  1. Down syndrome
  2. Fragile X syndrome
  3. 22q11 deletion (DiGeorge, CATCH22)
  4. 15q11-13 microdeletion (Angelman, Prader Willi)
  5. Autism (or social delay only)
  6. Cerebral palsy (or motor delay only)
  7. Rett’s syndrome
  8. Hypothyroidism
  9. PKU
  10. Rubella (congenital)
  11. Alcohol in utero
  12. Hypoxic brain utero in utero
50
Q

What other names exist for 22q11 deletion syndrome?

A

similar / overlap with DiGeorge syndrome, CATCH22

51
Q

What is the inheritance pattern of 22q11 deletion syndrome?

A

95% de novo, autosomal dominant mutation

52
Q

What is the expressivity of 22q11 deletion syndrome like and what and 6 of its non-specific features?

A

Variable expressivity

  1. Non-specific learning disabilities
  2. Short stature
  3. Increased adult psychosis risk
  4. Autism
  5. ADHD
  6. Speech problems
53
Q

What is the mnemonic to remember the presentation of 22q11 deletion syndrome and what does it represent?

A

CATCH22

  1. Cardiac abnormality e.g. tetralogy of Fallot
  2. Abnormal facies
  3. Thymic hypoplasia - immunodeficiency
  4. Cleft palate
  5. Hypocalcaemia due to parathyroid dysfunction
  6. 22: 22q11 deletion
54
Q

How is a diagnosis of 22q11 deletion syndrome made?

A

FISH: fluorescence in situ hybridisation

55
Q

What are the 2 types of syndromes which can be caused by 15q11 - 13 microdeletion?

A

Prader Willi and Angelman

56
Q

What is the pathophysiology of 15q11 - 13 microdeletion and how can it lead to Prader Willi and Angelman syndromes?

A

Imprinting: one allele silenced by imprinting and other expressed in parent-of-origin specific way

Angelman: maternal allele(s) active but contains deletion

Prader Willi: paternal allele(s) active but contains deletion

57
Q

What are 5 features of Angelman syndrome?

A
  1. Severe developmental delay
  2. Epilepsy
  3. Ataxia
  4. Unprovoked laughter
  5. Reduced speech
58
Q

What are 5 features of Prader-Willi syndrome?

A
  1. Low birth weight and failure to thrive
  2. Central hypotonia
  3. Hyperphagia from 2 years old
  4. Short and obese
  5. Mild/moderate developmental delay
59
Q

How is a diagnosis of 15q11-13 microdeletion syndrome made?

A

SNRPN methylation-specific PCR which compared active to inactive allele. +ve if active allele shorter. 80% sensitive

Follow up with FISH to find specific deletion

60
Q

What is the pathophysiology of fragile X syndrome?

A

CGG triplet repeat expansion of FMR1 gene of chromosome X

>200 repeats vs <55 in normal individuals. 55-200 (premutation) confer increased risk in subsequent generations through genetic anticipation

Traditionally considered X-linked dominant but complicated by incomplete penetrance and variable expressivity

61
Q

What is the male: female ratio of fragile X syndrome?

A

M:F 2:1

62
Q

What are 9 features of fragile X syndrome?

A
  1. Learning difficulties - more severe in males
  2. Behavioural problems: autism, ADHD, anxiety disorders
  3. Hypotonia
  4. Motor delay
  5. Joint laxity
  6. Large head and ears
  7. Prominent chin and forehead
  8. Large testes
  9. 1 in 5 female carriers have premature ovarian failure
63
Q

What is the definition of microcephaly?

A

occipital-frontal circumference <2nd centile

64
Q

What are 7 causes of microcephaly?

A
  1. normal variation e.g. small child with small head
  2. familial e.g. parents with small head
  3. congenital infection
  4. perinatal brain injury e.g. hypoxic ischaemic encephalopathy
  5. fetal alcohol syndrome
  6. syndromes: Patau
  7. craniosynostosis
65
Q

What is the definition of hydrocephalus?

A

Condition in which there is an excessive volume of cerebrospinal fluid within ventricular system of brain - imbalance between CSF production and absorption

66
Q

What are 7 symptoms of hydrocephalus?

A
  1. Headache (typically worse in morning, when lying down and during valsalva)
  2. Nausea and vomiting
  3. Papilloedema
  4. Coma (in severe cases)
  5. Increase in head circumference in children
  6. Open anterior fontanelle - bulges, tense
  7. Failure of upward gaze (sunsetting eyes) - compression of superior colliculus
67
Q

What are the 2 categories that hydrocephalus can be divided into?

A
  1. Obstructive (non-communicating)
  2. Non-obstructive (communicating)
68
Q

What is obstructive hydrocephalus?

A

Structural pathology blocking flow of cerebrospinal fluid, causing dilatation of ventricular system superior to site of obstruction

69
Q

What are 3 causes of obstructive hydrocephalus?

A
  1. Tumours
  2. Acute haemorrhage e.g. SAH or intraventricular haemorrhage
  3. Developmental abnormalities e.g. aqueduct stenosis
70
Q

What is non-obstructive hydrcephalus?

A

Due to an imbalance of CSF production and absorption

71
Q

What are 3 causes of non-obstructive hydrocephalus?

A
  1. Increased production: choroid plexus tumour (rare)
  2. Failure of reasbroption at arachnoid granulations e.g. meningitis or post-haemorrhagic
  3. Normal pressure hydrocephalus: large ventricles but normal ICP
72
Q

What is the classic triad of normal pressure hydrocephalus?

A
  1. Dementia
  2. Incontinence
  3. Disturbed gait
73
Q

What are 3 important investigations for hydrocephalus and what must you be careful of?

A
  1. CT head: first line, fast and adequate resolution
  2. MRI: more detail, if suspect underlying lesion
  3. Lumbar puncture - diagnostic and therapeutic. do NOT use in obstructive hydrocephalus - will cause brain herniation
74
Q

What are 3 options for treatment of hydrocephalus?

A
  1. External ventricular drain (EVD) in acute, severe. In right lateral ventricle, drains into bag at bedside
  2. Ventriculoperitoneal shunt (VPS) - long term diversion technique to peritoneum
  3. Obstructive hydrocephlus: surgically treat obstructing pathology
75
Q

What are 6 causes of congenital hydrocephalus?

A
  1. Aqueductal stenosis (most common, affects aqueduct of sylvius)
  2. Neural tube defect e.g. spina bifida
  3. Arachnoid cysts
  4. Dandy-Walker syndrome - enlarged 4th ventricule
  5. Chiari malformation
  6. congenital toxoplasmosis
76
Q

What are 10 characteristic features of congenital rubella?

A
  1. Sensorineural deafness
  2. Congenital cataracts
  3. Congenital heart disease e.g. patent ductus arteriosus
  4. Glaucoma
  5. growth retardation
  6. hepatosplenomegaly
  7. purpuric skin lesions
  8. salt and pepper chorioretinitis
  9. microphthalmia
  10. cerebral palsy
77
Q

What are 3 typical features of congenital toxoplasmosis?

A
  1. Cerebral calcification
  2. Chrioretinitis
  3. Hydrocephalus
78
Q

What are 2 typical features of congenital cytomegalovirus?

A
  1. Growth retardation
  2. Purpuric skin lesions
79
Q

What is the most common congenital infection in the UK?

A

CMV

80
Q

What causes congenital rubella?

A

togavirus

81
Q

What are 4 points of the management of suspected congenital rubella?

A
  1. discuss with local health protection unit
  2. rubella immunity no longer routinely checked at booking visit
  3. if woman tested at any point and no immunity demonstrated, advise to keep away from people who might have rubella
  4. non-immune mothers hsould be offered MMR vacciantion in post-natal period NOT during pregnancy/ attempting to become pregnant
82
Q

What are the types and inheritance pattern of neurofibromatosis?

A

NF1 and NF2, autosomal dominant fashion

83
Q

What is another name for neurofibromatosis type 1 and what is the pathophysiology?

A

Recklinghausen’s syndrome; gene mutation on chromsome 17 which encodes neurofibromin

84
Q

What is the pathophysiology of neurofibromatosis 2?

A

gene mutation on chromosome 22 (much more rare than NF1)

85
Q

What are 6 features of neurofibromatosis 1?

A
  1. Cafe au lait spots (>6, 15mm in diameter)
  2. Axillary/groin freckles
  3. Peripheral neurofibromas
  4. Iris hamatomas (Lisch nodules) in >90%
  5. Scoliosis
  6. Phaeochromocytomas
86
Q

What are 2 key features of NF2?

A
  1. Bilateral vestibular schwannomas
  2. Multiple intracranial schwannomas, meningiomas and ependymomas
87
Q

What is tuberous sclerosis?

A

Genetic condition of autosomal dominant inheritance. majority of features are neurocutaneous (like NF)

88
Q

What are 5 cutaneous features of tuberous sclerosis?

A
  1. depigmented ‘ash-leaf’ spots which fluoresce under UV light
  2. roughened patches of skin over lumbar spine (Shagreen patches)
  3. adenoma sebaceum (angiofibromas): butterfly distribution over nose
  4. fibromata beneath nails (subungual fibromata)
  5. cafe au lait spots may be seen
89
Q

What are 3 neurological features of tuberous sclerosis?

A
  1. developmental delay
  2. epilepsy (infantile spasms or partial)
  3. intellectual impairment
90
Q

What are 5 features of tuberous sclerosis in addition to the neurological and cutaneous features?

A
  1. retinal hamartomas: dense white areas on retina (phakomata)
  2. rhabdomyomas of heart
  3. gliomatous changes can occur in the brain lesions
  4. polycystic kidneys, renal angiomyolipomata
  5. lymphandioleiomyomatosis: multiple lung cysts
91
Q

What is Sturge Weber syndrome? What are the 3 types?

A

Neurocutaneous syndrome; 3 main subtypes, 1= skin and neuro, 2 = skin±glaucoma, 3= neuro only.

92
Q

What is the key cutaneous manifestation of Sturge-Weber syndrome? What causes it?

A

port wine stain; usually at least one eyelid and/or forehead of one side affected. if untreated can deepen in colour, thicken, and develop blebs that can burst and bled.

caused by overabundance of capillaries ujst below surface of skin in distribution of trigeminal nerve.

93
Q

What causes the neurological manifestations that can occur in Sturge Weber syndrome?

A

growht of abnormal blood vessels on surface of brain - leptomeningeal angiomas

94
Q

What are 5 neurological signs of Sturge Weber syndrome?

A
  1. Seizures
  2. Headaches/ migraines
  3. Muscle weakness or paralysis
  4. Loss of vision in half of visual field (hemianopia)
  5. Risk of stroke/ TIA
  6. Developmental delay
  7. Cognitive impairment
95
Q

What is the cause of Sturge Weber syndrome?

A

Somatic mutation in GNAQ gene that occurs sporadically after fertilisation - not inherited, but congenital.

96
Q

When does intraventricular haemorrhage occur in neonates and what is the cause?

A

in first 72 hours after birth; aetiology not well understood, suggested to occur due to birth trauma combined with cellular hypoxia, with delicate neonatal CNS

97
Q

What is intraventricular haemorrhage?

A

Haemorrhage that occurs into the ventricular system of the brain. Blood may clot and occlude CSF flow, hydrocephalus may result

98
Q

What is the treatment for intraventricular haemorrhage?

A

Largely supportive; hydrocephalys and rising ICP indication for shunting

99
Q

What can congenital hypothyroidism lead to?

A

if not treated within first four weeks, causes irreversible cognitive impairment

100
Q

When and how are children screened for congenital hypothyroidism?

A

screened at 5-7 days using heel prick test

101
Q

What are 5 features of congenital hypothyroidism?

A
  1. prolonged neonatal jaundice
  2. delayed mental and physical milestones
  3. short stature
  4. puffy face, macroglossia
  5. hypotonia
102
Q

What is hypoxic-ischaemic encephalopathy?

A

Type of newborn brain damage caused by oxygen deprivation and limited blood flow. Type of birth injury

103
Q

What are 5 possible results of hypoxic-ischaemic encephalopathy?

A
  1. cerebral palsy
  2. cognitive disabilities
  3. epilepsy
  4. hearing and vision impairments
  5. speech delays and language disorders
  6. behavioural and emotional disorders (global dd)
104
Q

What are 5 risk factors for hypoxic-ischaemic encephalopathy?

A
  1. obeisty
  2. diabetes or gestational diabetes
  3. high blood pressure or preeclampsia
  4. intrauterine growth restriction (IUGR)
  5. multiples pregnancy - twins, triplets etc.
105
Q

What proportion of newborn infants become visible jaundiced and why?

A
  • Over 50%;
  • marked physiological release of haemoglobin from breakdown of red cells because of high haemoglobin concentration at birth
  • red cell lifespan of newborn infants (70 days) markedly shorter than for adults. hepatic bilirubin metabolism less effiicient in first few days of life
106
Q

Why is neonatal jaundice important, despite being common?

A
  • may be a sign of another disorder e.g. haemolytic anaemia, infection, inborn error of metabolism, liver disease
  • unconjugated bilirubin can be deposited in brain, particularly in basal ganglia, causing kernicterus
107
Q

What is kernicterus?

A

Encephalopathy resulting from deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei; may occur when level of unconjugated bilirubin exceeds albumin binding capacity of bilirubin of blood

varying neurotoxic effects. transient disturbance –> death

108
Q

What are 12 causes of neonatal jaundice?

A
  1. rhesus incompatibility –> haemolytic
  2. ABO incompatability
  3. G6PD deficiency
  4. spherocytosis, pyruvate kinase deficiency
  5. congenital infection
  6. physiological
  7. breast milk jaundice
  8. infection e.g. UTI
  9. bruising
  10. polycythaemia
  11. hypothyroidism
  12. high GI obstruction e.g. pyloric stenosis
109
Q

What is periventricular leucomalacia? What can it cause?

A

death of small areas of white matter of brain tissue around ventricles, common in premature or low birth weight babies

can cause cerebral palsy

110
Q

What is thought to be the cause of periventricular leucomalacia?

A

Lack of oxygen or blood flow to periventricular area of brain, resulting in ischaemia of brain tissue

111
Q

What is phenylketonuria?

A

inborn error of metabolism resulting in decreased metabolism of amino acid phenylalanine

112
Q

What are 6 things that phenylketonuria causes?

A
  1. intellectual disability
  2. seizures
  3. behavioural problems
  4. fairer skin, hair and eyes
  5. eczema
  6. emesis
113
Q

What is the treatment of phenylketonuria (PKU)?

A

low-protein diet; amino acid supplement to make sure getting all nutrients required

Paeds: Child Development (8 decks)

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