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Paediatrics > Developmental milestones > Flashcards

Developmental milestones Flashcards

1
Q

What is tested for in the neonatal heel prick screening test?

A

Galactosaemia Immunoreactive trypsinogen (Cystic fibrosis) Inborn errors of metabolism Phenylketonuria (PKU) TSH (congenital hypothyroidism) Sickle cell disease

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2
Q

Causes of developmental disability

A

Drug and toxic substance poisoning (e.g. Foetal alcohol syndrome) Genetic disorders (Down syndrome, Fragile X, Prader willi, velocardiofacial syndrome) High risk pregnancies (extremes of age, drug therapy, maternal DM, birth asphyxia, premature, congenital TORCH) Environmental factors (e.g. lead poisoning) Metabolic (PKU, hypothyroidism, halactosaemia, Tay Sachs) Childhood accidents Malnutrition Neonatal Jaundice Postnatal infections (meningitis) Recognised syndromes (Autism, Landua Kleffner) Idiopathic

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3
Q

Red flags in gross motor development

A

Reduced movement on one side Poor head control after 4 months Persisted of primitive reflexes after 6 months Not sitting after 7 months Increased or decreased tone at any age

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4
Q

Red flags in fine motor development

A

Early handedness before 18 months Not reaching after 5 months Not transferring after 9 months Not feeding self after 18 months Not drawing person by 3 years

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5
Q

Red flags in language/speech development

A

Stutter Hearing difficulty No words after 18 months No combination after 2 years Poor articulation after 3 years No 3-4 word phrases after 4 years Echolalia after 3 years

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6
Q

Red flags in social development

A

Obsessions at any age Poor eye contact at any age Lack of responsiveness after 3 months Not waving bye by 14 months Persistent mouthing after 15 months Not pointing after 15 months

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7
Q

Prevalence of down syndrome (in general and per ages)

A

1 per 600 live births 30: 1/1000 35: 1/400 40: 1/100 45: 1/30

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8
Q

First trimester screen for trisomy 21

A

performed at 11-13 weeks GA Ultrasound - increased nuchal translucency Largely increased free bhCG Reduced Preganncy-associated plasma protein-A (PAPP-A)

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9
Q

Second trimester (quadruple) screening test for trisomy 21

A

15-18 weeks GA Reduced maternal serum AFP Reduced unconjugated estriol (uE3) Largely increased total hCG Largely increased inhibin A

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10
Q

Diagnostic antenatal testing for down syndrome

A

Chorionic villus sampling: - performed at 12-14 weeks - 1% risk of pregancy loss Amniocentesis - performed at 15-18 weeks - 0.5% risk of pregnancy loss

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11
Q

Clinical features of Down syndrome present at birth (10)

A

Hypotonia Poor moro reflex up-slanting palpebral fissures Small low-set ears Flat facial profile Simian crease (single palmar crease) Dysplasia of mid phalanx of fifth finger (incurving of little finger) Hyperflexibility of joints Excess skin at nape of neck Dysplasia of pelvis

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12
Q

Epidemiology of Fragile X syndrome

A

1/1000 prevalence Commonest form of X-linked intellectual impairment Twice as common in males Carrier rate 1/250 in women Associated with autism spectrum disorders and epilepsy

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13
Q

Clinical features of Fragile X syndrome

A

Macrocephaly Large ears Prominent forehead and chin (long face) Hyper-extendable joints and flat feet Testicular enlargement (>25mL after puberty) Intellectual and learning disability Developmental delay Behavioural problems (hyperactivity, inattention, gaze aversion, stereotypic movements, hyperarousal, unusual speech patterns) Often a family history of similar issues

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14
Q

Diagnosis of Fragile X syndrome

A

DNA analysis to identify the Fragile X mental retardation gene (FMR1)

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15
Q

What is Turner’s syndrome?

A

A chromosomal disorder involving complete or partial absence of the second X chromosome in phyenotypic females, typically presenting with short stature and premature ovarian failure

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16
Q

Phenotypical features of Turner’s syndrome

A

Short stature Webbed neck Shield chest Widely spaced nipples Underdeveloped breasts Cubitus valgus (bowing of arm) Congenital lymphoedema of hands and feet High-arched palate Short 4th and 5th metacarpals Down-sloping eyes, ptosis

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17
Q

Other (non-phenotypical) features of Turner’s syndrome

A

Ovarian failure: primary amenorrhoea, no pubertal development (in most) - some may develop then have secondary amenorrhoea Short stature Renal anomalies in 40% - collecting system malformations - Horseshoe kidneys - malrotation and positional abnormalities Cardiovascular disease (bicuspid AV or coarctation)

18
Q

Diagnosis of Turner syndrome

A

Peripheral white cell karyotype (+/- FISH if inconclusive) + then screen skeletal system, renal system, heart and pelvic ultrasound

19
Q

Diagnostic criteria for Turner’s Syndrome

A

Complete or partial X monosomy Short stature (below 2nd percentile) Premature ovarian failure OR heart defects

20
Q

What is Marfan syndrome

A

An inherited disorder of connective tissue, causing loss of elastic tissue and affecting numerous body systems including skeletal and cardiac

21
Q

What is the inheritance pattern of Marfan syndrome?

A

Autosomal dominant 25% are sporadic mutations

22
Q

Incidence of Marfan syndrome

A

1/10,000

23
Q

What is the mutation in Marfan syndrome

A

A mutation in the fibrillin-1 gene (chromosome 15)

24
Q

9 MSK, 2 CVS, 3 Occular

Phenotype of marfan syndrome

A

Highly variable

Musculoskeletal System:

  • Tall stature
  • Long limbs
  • Long fingers (arachnodactyly)
  • Joint laxity and flat feet
  • Chest deformity (Pectus excavatum), kyphoscoliosis
  • Long narrow face
  • Deep set eyes
  • High narrow palate
  • Dental crowding

Cardiovascular

  • Mitral valve prolapse
  • Dilation of the ascending aorta (50%)

Eye

  • Ectopia lentis (dislocation of the lens)
  • Severe myopia
  • Retinal detachment
25
Q

Complications of Marfan syndrome

A
  • Aortic dissection and rupture (due to dilation of the ascending aorta)
  • Spontaneous pneumothorax
  • Striae
  • Hernia
  • Lower life expectancy (72 avg)
26
Q

What is neurofibromatosis?

A

A genetic disease which disturbs cell growth in the nervous system, leading to the development of multiple soft tumours (neurofibromas) and other complications.

27
Q

What are the different forms of neurofibromatosis

A

Neurofibromatosis 1

Neurofibromatosis 2

Schwannomatosis

Each are clinically and geneticall distinct from eachother

28
Q

Prevalence of neurofibromatosis

A

1/3000

NF1 is most common

29
Q

Inheritance pattern of neurofibromatosis

A

50% is inherited in autosomal dominant pattern

50% is sporadic mutation

30
Q

Defect in neurofibromatosis

A

Neurofibromin gene - expressed in kidneys, brain, spleen and thymus

31
Q

Clinical manifestations of neurofibromatosis

A

Cafe-au-lait macules: >6

Freckling in axillary and inguinal areas

Neurofibromas

Optic pathway gliomas (reduced visual acuity, colour fision, pupillary function + proptosis and optic nerve atrophy)

Lisch nodules

Bone abnormalities

Neurologic abnormalities
(cognitive, learning, seizures, macrocephaly, peripheral neuropathy)

Hypertension

32
Q

What is a Lisch nodule?

A

Raise, tan-coloured hamartoma of the iris that does not affect vision and is best seen through a slit lamp examination though may be visible with a direct ophthalmoscope

33
Q

What is a neurofibroma

A

A benign peripheral nerve sheath tumour comprised of a mixture of Schwann cells, perineural cells and mast cells

  • Cutaneous
    • most common tipe
    • soft, fleshy, sessile or pedunculated tumours
    • non-tender and mobile
  • Plexiform
    • may be located superficially and assocaited with overgrowth of skin and soft tissue
      OR
    • may be located deep inside the body - appears as thickened nerve
34
Q

Complications of neurofibromatosis

A

Hypertension

Scoliosis

Bone problems

Plexiform neurofibromas (usually present at birth)

Spine and brain tumours (usually benign)

Speech delay

Epilepsy

35
Q

What is Klinefelter syndrome?

A

A chromosomal disorder of males in which there is an additional X chromosome, hence the karyotype 47 XXY

36
Q

Epidemiology of Klinefelter syndrome

A
  • Birth incidence 1/700 live born males
  • Most common chromosomal disorder in men
  • Most common cause of mal hypogonadism
  • Many men are never diagnosed, those who are are diagnosed as adolescents with delayed puberty or as adults with infertility
  • Increased prevalence of cryptorchidism
37
Q

Phenotypic features of Klinefelter syndrome (18)

A
  • Tall stature
  • Long limbs
  • Small testes
  • Undescended testes
  • Gynaecomastia
  • Female fat distribution as ages
  • Infertility
  • Behaviour problems
  • Less facial and body hair/decreased shaving frequency
  • Low libido
  • Poor erections
  • Fatigue
  • Osteoporosis
  • Depression
  • IQ lower than siblings
  • Difficulties with language and motor development
  • Lower attention span
  • Poor muscle tone
38
Q

Management of Klinefelter syndrome

A
  • Testosterone
    • treatement at puberty will lead to more normal male development
  • Early access to reproductive medicine i.e. in teenage years to store sperm to enhance reproductive chance
39
Q

Complications of Klinefelter’s syndrome

A
  • Pulmonary diseases
    • Chronic bronchitis
    • bronchiectasis
    • Emphysema
  • Cancers
    • Germ cell tumours
    • Breast cancer
    • Non-Hodgkin lymphoma
  • Varicose veins - leg ulcer
  • SLE
  • Diabetes Mellitus
40
Q

Oedema of hands and feet in a newborn indicates what

A

A very rare clinical sign, high likelihood of Turner’s syndrome, thus warrants prompt investigation and karyotyping

Paediatrics (20 decks)

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