LMCC REVIEW: PEDIATRICS PART II AND DEVELOPMENT PEDIATRICS

1. LMCC REVIEW:PEDIATRICS PART IIAND DEVELOPMENT PEDIATRICS Asha Nair, MD, FRCPC Developmental Pediatrician CHEO/OCTC

2. GENETICS

3. General • Major anomalies in 3% of nb (CHD, SB, CL) • recurrence risk is 3-5% • Minor anomalies in 15% (toes/fingers) • Mechanisms of anomalies • Malformations (defect of organ from abN dev’t process) • Deformation (abN form,shape or position) from mechanical forces • Disruption (defect from extrinsic breakdown or interference with an original developmental process)

4. Dysmorphology (cont.) • Patterns of malformation include syndrome, sequence and association • SYNDROME: a pattern of anomaly due to a single/specific cause ie Marfan, Down, FAS • SEQUENCE: an underlying anomaly giving rise to a cascade of secondary problems ie Pierre Robin • ASSOCIATION: nonrandom combination of anomalies that occur together more frequently than expected by chance ie VACTERL

5. Teratogens • Drugs: • Thalidomide – phocomelia • DES - vaginal adenocarcinoma • Tetracycline - staining of teeth/bone • Retinoic acid - brain/ear/heart • Testosterone – virilization • Alcohol: FAS • Congenital infections (TORCH, varicella, parvovirus) • Metabolic conditions (maternal diabetes, PKU)

6. Patterns of Inheritance • Autosomal dominant • Autosomal recessive • X-Linked recessive • Multifactorial

7. Chromosomal Abnormalities • Aneuploidy/ Polyploidy: indicates an extra or missing chromosome • Trisomies or monosomies • Abnormalities of Chromosome structure • Deletions • Translocations • Inversions • Duplications • Sex Chromosome Anomalies

8. Down Syndrome Inheritance • nondysjunction (Trisomy) ; 95% • translocation (14/21 or 21/21) = 4 % • mosaics = 1 %

9. Hypotonia Low IQ (most are mild- moderate MR) Flat occiput Microcephaly Epicanthal folds Brushfields spots Simian crease Freq. OM/sinusitis/ NLD obstruction ( mid-face hypoplasia) Congenital heart disease (50%)AA instability Obstructive sleep apnea Hypothyroid Hearing loss Increased risk ALL & early Alzheimer's Down Syndrome • Most common autosomal chr. Abnormality • 1/600-800 births: Increases with mat. ageFeatures include:

11. Turner’s Syndrome • Incidence 1/2500 • 45 XO (55%) • mosaicism (25%) • Clinical features Birth: • edema of dorsum of hands and feet • loose skin folds at nape of neck • short stature

12. Turner’s Syndrome • Clinical features (very large variability) • Childhood: • low posterior hairline* • small mandible - prominent ears • epicanthal folds - high arched palate • broad chest* -cubitum valgus (incr. carrying angle)* • hyperconvex fingernails • pigmented nevi (  with advancing age)

13. Turner’s Syndrome • Associated features • short stature* • delayed puberty* secondary to gonadal dysgenesis • CVS defects- (Coarct, bicuspid AoV)* • renal anomalies 50% • spatial perceptual difficulties • Increased risk • hearing loss - autoimmune thyroiditis • IBD - GI telangiectasia

15. Klinefelter Syndrome – 47XXY

16. Fragile X Syndrome • X-linked: 1/1000 • MR • Large head, long face, prominent jaw and ears • Macro-orchidism • Females show varying degress of MR

18. Williams Syndrome • 7q deletion • Round face with full cheeks & lips (elfin facies) • Blue eyes with stellate pattern in iris/strabismus • Calcium disturbances • Cardiac issues: most common is supravalvular aortic or pulmonary stenosis • Growth & developmental delays/varying degree of MR • Friendly/outgoing personality

20. DiGeorge or Velocardiofacial • Catch 22 Syndrome ( Cardiac, Abnormal facies, Thymic, Cleft palate, Hypocalcemia) • Chr 22 deletion • Hypoplasia or agenesis of thymus and parathyroid glands • Hypoplasia or auricle and external auditory canal • Conotruncal cardiac anomalies • Short stature • Behavioral difficulties and developmental delay

22. Other Deletion Syndromes • Prader Willi (deln. in paternal chr. 15) • Hypotonia at birth with FTT • Obesity and short stature (GH responsive) • Almond shaped eyes • Small hands/feet and hypogonadism • Mild mental retardation • Angelman (deln in maternal chr 15) • “Happy Puppet” • Hypotonia • Fair hair, midface hypoplasia, prognathism • Jerky ataxic movements,seizures, uncontrollable bouts of laughter, and severe MR

24. Noonans Syndrome • Can be AD transmission • Low set ears, down-slanting palpebral fissures, webbed neck • Cardiac anomalies: commonly pulmonary outflow tract and arrhythmias • Short stature • Features may change with age and become easier to id

25. Fetal Alcohol Syndrome • major and minor components expressed in 1-2 infants per 1000 live births • 4-6 drinks/day • 30-40% of offspring born to heavy drinkers demonstrated congenital anomalies

26. Fetal Alcohol Syndrome • Characteristics • prenatal onset and persistent growth deficiency (ht, wt, hc) • facial anomalies • short palpebral fissures • epicanthal folds • maxillary hypoplasia • micrognathia • thin upper lip

27. Fetal Alcohol Syndrome • cardiac defects especially septal defects (ASD) • poor joint mobility • mental deficiency varying borderline severe -attention and impulsivity issues (legal pblms) Fetal Alcohol Effect (FAE) • varying phenotype, can be subtle • tend to have CNS effects

29. Marfan’s Syndrome • Autosomal dominant 1/20,000 • Manifestations • tall stature • extremities extremely long (especially distal bone) • spider fingers • arm span > height

30. Marfan’s Syndrome • wrist sign • thumb and fifth finger overlap when clasped around the wrist • Steinberg thumb syndrome • thumb opposed across palm extends past ulnar border • thoracic cage deformity • pectus, pigeon chest • hyperextension joints with recurrent dislocation

31. Marfan’s Syndrome • ectopia lentis • also retinal detachment, myopia, strabismus • CVS abnormalities • aortic root dilatation • MVP • Differential diagnosis • homocystinemia • MR associated

33. VACTERL Vertebral defects Imperforate Anus Cardiac Tracheoesophageal fistula Radial and renal Limb anomalies VATER excludes cardiac and limb anomalies CHARGE Association Coloboma Heart disease Atresia of choanae Retarded growth Genital anomalies Ear anomalies Associations

34. Neurocutaneous Syndromes-Neurofibromatosis • 50% AD • Skin lesions include: • café au lait spots • Axillary or inguinal freckling • neurofibromas • Other lesions include: • Optic gliomas • Iris hamartomas (Lisch nodules) • Osseous lesions ( spheniod dysplasia)

36. Neurocutaneous Syndromes-Tuberous Sclerosis • 30% AD • Skin lesions include: • Ash leaf spots • shagreen patch • Adenoma sebacum • Café au lait • Periungal fibromas • Other associations include: • Infantile spasms • DD and MR • Calcified tubers in brain • Retinal lesions

38. Neurocutaneous Syndromes • Sturge Weber (sporadic) • Skin lesions include: port wine stain inV1, cutaneous vascular malformations • Other findings include: sz, glaucoma, hemihypertrophy, intrecranial AVM/calcifications, MR • Ataxia Telangectasia (AR) • Skin findings include: conjunctival and cutaneous telangectasia, and café au lait spots • Other findings include: Ataxia , immunodeficiencies and malignancy • Incontinentia Pigmenti(XLR) • Skin lesions include: bullae as neonates, splashes or whorls of hyperpigmentation • Other findings include: sz, DD, MR, strabismus

40. Febrile Seizures • Common 4-5%( OM, Gastro,URTI, Roseola) • 6 months - 5 years • Generalized tonic-clonic seizure without aura • Brief ‹ 15 minutes • Absence of CNS infection/absence of CNS signs interictally

41. Febrile Seizures • positive family history in 60-70% • 30 % will have recurrence(more common if + FH, 1st sz < 1yr) • risk of epilepsy 2%( more common if atypical features, underlying CNS pathology or + FH epilepsy) • versus 0.5% in general population • Treatment • antipyretic measures • acetaminophen • sponging with tepid water • anticonvulsant therapy in rare instances

42. Breathholding Spells(Cyanotic) • 6 months - 4 years • Onset always with crying • Infant stops breathing and becomes deeply cyanotic • Limbs become rigidly extended • If prolonged, LOC occurs with occasional convulsive jerks • child becomes limp, resumes breathing • within seconds is fully alert

43. Breathholding Spells • Prognosis • benign • disappears spontaneously by school age • these kids have increased risk of vasovagal syncope in childhood

44. Pallid Attacks • Infantile syncope follows a sudden minor injury • Child starts to cry, turns pale, and LOC • Transient apnea and limpness  rapid recovery • 2o to vagal reflex overactivity  marked transient bradycardia and circulatory impairment • Benign • Disappears spontaneously by school age

45. Night Awakening Night Terror Nightmare Duration < 5 mins Short Recall No Yes Consolable No Yes Sleep stage IV REM Treatment Valium Nil

46. Headaches • Not usually psychosomatic in young kids • detailed hx and pe to R/O severe pathology including: • Description • Location • Associated symptoms neuro and systemic • Family history • Emotional /stressors • Vitals • Full neuro exam including CN, fundi, motor, sensory and DTR)

47. Headaches- Types • Tension • Chronic and recurrent • No prodromes • Diffuse bandlike, tight • Sometimes associated with depression/anxiety, problems at school or at home • Vascular/ Migraine • Acute, paroxysmal, recurrent • Prodromes often present/ certain triggers • Intense, pulsatile, unilateral • Neurological signs are transient • Positive family history

48. Headaches- Types • Headaches secondary to increased ICP – What we worry about! • Chronic or intermittemt but increasing frequency and severity • Am headache with vomiting ( often no nausea) • Deterioration in social, school and academic prowess • Physical exam positive for strabismus, visual loss, poor pupillary response, papilledema, coordination and gait abnormailties

49. BEHAVIORAL PROBLEMS

50. BEHAVIOUR- A COMMON CONCERN • Common presenting problem in pediatric practice (25-50%) • 90% of moms of 2, 3, & 4 year olds have “some” concern • 20% of moms of 4 years olds have major concerns (most around discipline) • Parents greatly appreciate help • Management is often effective and quick and can prevent serious future problems