Developmental Problems

Question 1

What are the different types of spastic cerebral palsy?

Answer 1

Hemiplagia- unilateral involvment of arm and leg. Arm affected more than leg. Face spread- present 4-12M

Quardiplegia- all 4 limbs affected often severely

Diplegia- all 4 limbs but legs affected more than arms.

Question 2

Whats hemiplegia?

Answer 2

Present with fisting of affected arm, flexed arm, prontated forearm, assymetric reaching or hand fx.
Tipotoe walk evident.

Affected side may initially be hypotonic anf flaccid but increased tone soon emerges as predominant sign.

Sometimes from neonatal stroke- larger brain lesions- stroke- may cause hemianopia - loss of half of visual field of the same side as affected side.

Question 3

Whats quadriplegia?

Answer 3

Trunk involved- tendency to opisothonous (extensor posturing)
Poor head control and low central tone.
Severe palsy assc w/ seizures, microcephaly ( neurons dont develop fully- no ‘window’ potential- exposure.
Moderate to severe intellectual impariment.
May Hx of HIE

Usually- scissoring of legs from xs adduction of hips, pronated both arms, fisted hands.

Question 4

Whats diplegia?

Answer 4

Motor diff in legs apparent- abnormal walk, but normal arm fx
Pattern assc with preterm birth due to periventricular brain damage.

Question 5

Whats dyskinetic CP?

Answer 5

Dyskinesia- involuntary, uncontrolled, stereotyped movements + evident on active movements or stress
Described as: Chorea- irregular, sudden and brief non repetative moves.
Athetosis- slow writhinh moves occuring at distal ends eg fanning of fingers.
Dystonia- simultaneous contraction of agonists and antagonists of trunk ! Giving twisting apperance.

Intellect might be unimpaired
.damage to basal ganglia or assc pathways- extrapyramidal.
Past- commonest cause- hyperbilitubinaemia (kernicterus) due to rhesus D of neuborn.
Now- HIE at term.

Question 6

Whats ataxic (hypotonic) CP?

Answer 6

Most genetically determined.
Symmetrical signs if lesion.(cerebellum + its connections)
Early trunk + limb hypotonia, poor balance + delayed mortor development.

Later: intention tremor, incordinate moves + ataxic gait.

Question 7

How do you manage cerebral palsys?

Answer 7

Dx asap, prognosis diff untill full severity reached.

MDT needed

Question 8

Whats cerebral palsy?

Answer 8

Many causes, 10% HIE
PC- infancy w/ abn tone + posture, delayed milestones + feeding diff.m
3 types- spastic, dyskinetic, ataxic.

Question 9

What F might suggest a neurodevelopmental delay?

Answer 9

Prenatal: + ve Fx, ANC screening - USS - NTT- nuchal thickness usually 2-6mm >6-11mm bad.. + triple blood tesy for Downs, NTD (spina bifida) + hydrocephalus. AMNC + CVS for chromosomal disorders.

Perinatal- after birth asphyxia + NE (neonatal encephalopathy)
Preterm infants- w/ IVH (intraventricular haem) /periventricular leukomalacia, PHhydrocephalus. Post haem.
Dysmorphic f
Abn neuro behav-seizures, tone, feeding, visual impair, movement

Infancy- global develp. Delay.
Delayed or assymetrical motor movement. Hearing and vision concerns. Dysmorphic f

Preschl- speech + language delays, abn gait, clumsy motor skills

Schl age- balance + coordination probs, learning diff (late sign), attention control, hyperactivity, specific learning difficulties (dylexia, dyspraxia) , social communic diff (autism)

Any: aquired brain injury, e.g. After meningitis, head injury, loss of skills.

Question 9

What are some conditions that cause abnormal development and learning diff?

Answer 9

Prenatal

Genetic- downs, fragile X syndrome, duplications and microdeletions of chromosomes.
Cerebral dysgenesis- microcephaly, abscent corpus callosum, hydrocephalus, neural migration disorder.

Vascular- Occlusions, haemorrhage
Metabolic- hypothyroidism, phenylketonuria
Cong infx- Rubella, CMV, toxoplasmosis, HIV
Neuro cutaneous synromes- neurofibromatosis, tuberous sclerosis

Perinatal-
extreme prematurity- IVH/PV leucomalacia
Birth asphyxia- HIE
Metabolic- sx hypoglycaemia, hyperbilirubinaemia

Postnatal
Infx- Menigitis, enchepalitis
Anoxia- suffocation, near drowning, seizures
Trauma- head injury- accid or not
Metabolic- hypoglycaemia, inborn errors of metabolism
Vascular- stroke
Other-25%

Question 10

What invx or assesment would you consider for developmental delay?

Answer 10

Cytogenetic- chromosome karyotyping, fragile X analysis, DNA FISH analysis eg for chr 7,15,22 deletions, telomere screen.

Metabolic- TFTs, LFTs, U+Es, bone chemistry, plasma amino acids,
CK, blood lactate, ABGs, lead levels, urate, ferritin, ammonia. VLCFA
Maternal amino acids for raised phenylalanine.

Infx- cong infection screen
Imaging- Cranial USS in newborn, CT + MRI scans, skeletal survey, bone age.

Neurophysiology- EEG for seizures, nerve conduction studies, ERG (electroretinogram)

Histo- nerve + muscle biopsy.m
Other- hearing, vision, clinical genetics, child psych, dietician, nursery/schl reports, therapy assesment- physio, occupational, speech and language

Question 11

How do you classify Gross motor fx?

Answer 11

1. Walks without limitations
2. Walks with limitations
   Level 3- walks using handheld mobility device
3. Self mobility w/ limitations- may use powered mobility
4. Transported in a manual wheelchair.

Question 12

What are the limit ages for motor milestones?

Answer 12

Normal- median age- 1-5 M -pushes up on arms, holds head.
Limit age- 3M- Abnormal: unable to lift head or push on arms, stiff extended legs. Pushing back with head, constantly fisted hand and stiff leg on one side. Pushing back with head.

N-3M : sits with support, holds head up, rounded back.
Limit-6M.
Abn- unable to lift head, floppy trunk, stiff arms, extended legs. See notability.

Question 13

What are some features of autistic spectrum disorders?

Answer 13

Impaired social interaction: not seeking comfort, share pleasure, form close friemdships.
Prefers own company, gaze avoidance , social + emotional inappropriate behaviour, does not appreciate that others have feelings and thoughts.

Speech and lanhuage disorders:
Delayed development, may be severe. Limited use of gestrires and facial expression. Monotonous voice, pedantic language, refers to self as “you”,

Imposition of routines with ritualistic and repetetive behaviours:
Violent if distrurbed
Unusual stereotypical movements such as hand flapping and tip toe gait. Poverty of imagination, peculiar interests and repetative adherence, restriction in behaviour repertoire.

Co-morbidities
General learning and attention deficits (2/3)
Seizures (1/4 often not till adolescents).

Question 14

What happens in autism?

Answer 14

PC- 2-4Y with impaired social interaction, speech and language disorders and inposition of routines with ritualistic and repetitive behaviour.
Usually managed by behaviour modification such as Applied Behavioural Analysis (ABA).

Question 15

What are some causes and mx of hearing loss?

Answer 15

Sensorineural- majority- genetic,
ANC + perinatal- cong infx, preterm, HIE, hyperbilirubinaemia.
Postnatal- meningitis, encephalitis, head injury, drugs- aminoglycosides, furosemide, neurodegenerative disorders.
Profound hearing loss >95dB
Does not improve, may progress.
Mx- Amplification or cochlear implant if necessary. ( if he misses window- deaf) for optimal speech and language development.
Usually present at birth and is irriversible.

Conductive
Ottitis Media with effusion (glue ear), Eustachian tube dysfunction: Downs, cleft palate, Pierre Robin sequence, mid facial hypoplasia. 
Post- wax- rare
Max of 60dB hearing loss. 
Intermittent or resolves.
Conservative, amplification, or surgery.

Question 16

Whats an audiogram?

Answer 16

Measure air pressure within the middle ear and the compliance of the tympanic membrane, determine if middle ear functions properly. 
Mild severity: 20-30 dB HL
Moderate/ 40/69
Severe: 70-94
Profound- >95

Surgery- if antibiotics fail usually for conductive.
Tympanostomy tubes insertion (grommets) with or without removal of adenoids.

Any child with poor or delayed speech or language must have their hearing checked.

Question 17

How do you detect a squint?

Answer 17

Corneal light reflex - reflection test
Cover test- the fixing eye is covered, the squinting eye moves to take up fixation.
E.g. Left convergent squint.

Question 18

Vision delay- what happens?

Answer 18

Abnormal eye movements in a newborn infant or not smiling responsibpvely by 6M. Can it see?
Any infant with squint by 3M refer.
Concominant squint- common, usually due to refractive error in one or both eyes.

Paralytic squint- rare due to paralysis of the motor nerves, if rapid onsent consider space occupying lesion- brain tumor?

Test for squints? Corneal light reflex, + cover test for specialist.

Question 19

Who takes care of children with developmental problems and disabilities?

Answer 19

Local MDT child development services.
Often have complex medical needs
Need regular review as needs change with time affecting childs activity and participation.

Req coordination of care between family and many professionals involved. + education + social services.

Question 20

What might cause a short stature?

Answer 20

IUGR+ extreme prematurity, familial, 
Endocrine- 
hypothyroidism, 
GH deficiency, 
IGF-1 deficiency + 
Xs steroid (Cusgings) uncommon. 
Assc w/ overweight kids i.e their weight on a higher centile than their height. 

Nutrition/ chronic illness

Psychosocial deprivation

Chromosomal disorder/ syndromes

Question 21

How would hypothyroid cause probs,

Answer 21

Hypothyroidism-
Usually by autoimmune thyroiditis during childhood. Growth F, Xs wt gain. If undiagnosed for years- short stature. Congenital hypothyroidism- screened at birth- does not cause probs in puberty.

Question 22

How would GH deficiency cause short starture?

Answer 22

Isolated defect or 2o to panpituitarism.
Pituitary gland- congenital mid facial defects OR craniopharyngioma (tumor affecting pituitary area)
Hypothalamic tumor or trauma- head injury, meningitis and cranial irraadiation.

Question 23

What happens in craniopharyngiomas?

Answer 23

Craniopharyngioma PC- late childhood, may result in abn visual fields- bilateral hemianopia- as on optic chiasm. , optic atrophy or pappiloedema on fundoscopy.

Question 24

What happens in growth hormone deficiency?

Answer 24

Bone age is markly delayed.
Laron syndrome - defective GH insemsitivity.
High G hormome levels but low levels of the downstream active product of GH known as IGF-1 produced at the growth plate and in the liver.
Also rare abn in IGF1 gene.

Question 25

What hapoens in Cushings syndrome?

Answer 25

Usually iatrogenic, corticosteroid therapy- Potent ! growth supressor. In susceptible- lowest dose og inhaled or topical steroid might still affect.

Non iatrogenic Cushings- unussual in childhood + may be seen in pituitary or adrenal pathology.
Growth F may be severe, usually with Xs wt gain although normalisation of body shape and height occurs on withdrawal of steroid therapy.
Cushings during puberty can result in permanent loss of height.

Question 26

How would nutrition or a presence of chronic illness cause growth F?

Answer 26

Nutrition- common cause of abnormal growth- short and underweight
I.e. Wt is on same or lower centile with height.
Poor appetite assc w/ chronic illness, poor diet, or increased nutritional req from raised metabolic rate.
Chronic illness:
1. Coeliac -2Y- may - short starture w/o GI sx.
2. Crohns
3. CRF- abscence of hx of renal disease.

Question 27

What chromosomal abnormalities may cause short starture?

Answer 27

Downs
Turners
Nooan
Russell-Silver.

Turners hard to diagnose- should be assumeed in ALL short females

Question 28

How do you treat short starture?

Answer 28

GH- biosynthetic by SC injection daily. Expensive, specialist centres. 
Indications:
Severe GH deficiency
Turners
Prader- Willi syndrome, ( early hypotonia + feeding difficulties followed by short starture, obesity + learning diff) 
CRF
SHOX deficiency
IUGR

GH improves musculature, strenght and body composition + improves final height.
Recently- recombinant IGF-1 for GH resistance e.g. Laron syndrome
Very expensive tho.

Question 29

What could cause Xs growth and tall stature?

Answer 29

Familial- commonest
Obesity- puberty is advanced so final height centile is less than childhood.
Secondary:
Hyperthyroidism,
Xs sex hormones- precocious puberty
Xs adrenal androgen steroids- congenital adrenal hyperplasia
True gigantism (XS GH secretion)

Syndromes:
Long-Legged stature:
Marfan syndrome
Homocystinuria
Kleonefelter syndrome (47XXY + XXY karyotype) 

Proportionate tall stature at birth:
Maternal diabetes
1o hyperinsulinism
Beckwith symdrome

Sotos syndrome- assc w/ large head, facial features, learning difficulties.

Question 30

What happens in Microcephaly?

Answer 30

Head circumference

Question 31

Macrocephaly- what happens?

Answer 31

Head circumference above 98th centile.
Tall stature
Familial macro encephalopathy 
⬆️ICP
Hydrocephalus- progressive or arrested
Chronic Subdural haematoma
Cerebral tumor 
Neurofibromatosis
Cerebral gigantism (Sotos syndrome) 
CNS storage disorders - mucopolysacxharidosis- Hurler syndrome.

Often parents have big heads.
Rapid increase, crossing centiles, even if below 98th centile- ICP?? Due to hydrocephalus, subdural haematoma or brain tumour.
Inv‼️
ICranial USS if anterior frontanelle still open OR CT/MRI.

Question 32

What happens in assymetric heads?

Answer 32

Skull assymetry- imbalance of growth rate at coronal, sagittal or lamboid sutures, although head circumference normal.
Occipital plagiocephaly- (paralelogram shape head)- flat back of skull
parents heard that its better to put them lying on their back to prevent infant death syndrome- so increased frequency.
Also seen in hypotonic infants. Preterm infants- long periods in incubators unless soft surface.
Not assc with abnormal development.

Question 33

Whats craniosynostosis?

Answer 33

Sutures finish fully fusing in late childhood. Start in infancy.
Premature fusion of one or more sutires ( craniosynostosis) leads to distortion od head shape.
Mostly- sagittal- long narrow skull.

Confirmed on Xray or CT head.
If ⬆️ICP- surgical tx or cosmetic reasons.
Craniofacial reconstructive surgery.

Question 34

Why is precocious puberty more common in F?

Answer 34

Due to premature onset of normal puberty.
Central (true PP) precocious puberty in males more often has an organic cause- uncommon
E.g. Intracranial tumours. O/E testes- small? Adrenal cause.
Bilateral enlargment- gonadotrophin release, usually from intracranial lesion
Unilateral enlarged testis suggests gonadal tumour.

Tumours in hypothalamic region- BEST investigated by cranial MRI scan.

Question 35

How do you manage precocious puberty?

Answer 35

Detection and tx- intracranial tumor- males
Reducing rate of skeletal maturation- assesed by bone age.
An early growth sprut may result in eatly cessatiob of growth + reduction in adult height.
Males- radiotherapy? Iniection of gonadotropin super agonist.
Address psychological/ behavioural difficulties aasc w/ early progression through puberty.

Females- consideration.. Is it normal?
If central PP- GnRH analogues- tx of choice.
In false PP, the extra gonadal source of Xs sex steroids needs to be identified.
Inhibitors of androgen or oestrogen production or action - medroxyprogesterone acetate, cyproterone acetate, testolactone.

Question 36

Whats a sign of neurofibromatosis?

Answer 36

Multiple cafe-au-lait spots

-!type 1 neurofibromatosis

Question 37

What are some causes of delayed Puberty?

Answer 37

Constitutional delay of growth and puberty (CDGP)- Familial- Commonest.

Low gonadotrophin secretion- hypogonadotropic hypogonadism
- Systemic disease–> CF, severe asthma, Crohns D, organ F, anorexia nervosa, starvation, Xs physiacal training.
-Hypothalamo-pituitary disorders:
–> Panhypopituitarism, isolated gonadotrophin or GH deficiency,
Intracranial tumours ( incl craniopharyngioma) , Kallmann syndrome (LHRH deficiency + inability to smell).

High gonadotrophin secretion
Hypergonadotropic hypogonadism-
- chromosomal abnormalitites- Klinefelter syndrome (47XXY), Turner syndrome(45XO)
- steroid hormone enzyme deficiencies.
- Acuired gonadal damage–> Post-op, chemo, radio, trauma, torsion of testes, autoimmune diosrder.

Question 38

Whatbare gonadotropins?

Answer 38

Glycoprotein polypeptide hormones secreted by gonadotrope cells of anterior pituitary of vertebrates. FSH, LH, (hCG, eCG. Secreted by placenta).
They act on gonads(primary target organs of FSH and LH) controlling gamete and sex hormone production.

Gonadotrophins (Gn) are released under the control of GnRH from the arcuate nucleus and hypothalamus.

LH- stimulates Leydig cells of testes and theca cells of the ovaries to produce testosterone (and indirectly estradiol) ,
FSH - stimulates spermatogenic cells of testes and the granulosa cells of ovarian follicles as well as stimulatinh estrogen production by ovaries.

Question 39

What happens in abnormal sexual differentiation at birth?

Answer 39

Don’t guess infants gender- surgical, psychological team.. Sex hormone levels…
Commonest: female virilisation from congenital adrenal hyperplasia.

Question 40

Whats congenital adrenal hyperplasia?

Answer 40

Autosomal recessive disorder of adrenal steroid biosynthesis.
Females present with virilisation of the xternal genitalia.
Males present with salt loss (80%) or tall stature (20%) and not salt losers or precocious puberty.

• ⬆️⬆️ 17a hydroxyprogesterone, confirming CAH
  ⬇️Na + ⬆️ K, ⬇️HCO3: metabolic acidosis, ⬆️ urea- dehydration.
  Long term medical treatment- lifelong glucocorticoids, mineralocorticoids/NaCl if salt loss.
  Additional corticosteroids to cover chronic illness or surgery.

Salt losing adrenal crisis- needs ‼️ URGENT treatment w/ hydrocortisone, dextrose(glucose) ,saline IV.

Monitor growth, skeletal maturity, plsama androgens and 17a- hydroxyprogesterone.

F: corrective surgery for clitoromegaly before 1Y and vaginoplasty at puberty, bedore sexual intercourse.
So oral hydrocortisone, and flurocortisone (mineral) replacemnt therapy amd oral salt replacement- NaCl.
Surgery- reduce clitpric size and separate labia.
Karyotyoe and USS( uterus and ovaries?) required !