ABP Content Specs #5 General health problems Flashcards
Major Depressive Disorder criteria?
depressed or irritable mood, loss of interests, or pleasure most of hte day nearly every day of past 2 weeks.
sxs cause significant distress or impairment in social, academic, or other areas of functioning
Needs at least 4 of hte following:
- poor appetite/weight gain
- change in sleep patterns
- change in activity level (psychomotor agitation or retardation)
- fatigue/loss of energy
- feelings of worthlessness or excessive/inappropriate guilt (can’t do anything right, failure, shame of family)
- change in concentration
- suicidal ideation
Understanding of death
infants: no understanding of death; just like significant separation
0-2 years: respond to changes in routines, caregivers, emotional stress in family; experience separation anxiety, irritable, regression
preschool 3-5 years: death is temporary/reversible; literal thinking about causes; will link unrelated things to death (transductive reasoning); use magical thinking to explain death (e.g. got sick b/c didn’t eat soup that mom told me to eat)
school age 6- 8 year: death is final/irreversible but not universal; death ‘catches’ elderly/disabled; may be contagious; concerned with safety and predictability
pre-adolescent 9-12 year: adult understanding- death is final/irreversible/universal; understands biological aspects of death; interested in rituals/roles/ceremonies; understand causality - feel guilty about contributing to it; will intellectualize death
adolescent 13-18 year: adult understanding that death is final/irreversible; engages in high-risk activities to challenge own mortality; reject adult rituals and support
What is patient adherence/compliance?
degree to which patient correctly follows medical advice
Vulnerable child syndrome?
-children who have an increased, atypical, or exaggerated susceptibility to disease or disorder due to medical, socio-economic, psychological, genetic, biological, and environmental risk factors
-a child with a real or imagined illness in early life is the target of altered attachment by her parents
-parents start thinking that child is susceptible to illness, injury or loss
-child viewed as fragile, incapable of age-approp behavioral expectations
-leads to ongoing intra-familial stress, altered interaction btwn child and parent, inability to allow age-appro autonomy or set limits
Side effects of atomoxetine?
increased suicidal thinking
rare psych side effects: hallucinations, delusional thinking, mania
new onset motor tics
Side effects of tricyclic antidepressants (imipramine, desipramine, nortriptyline)?
it inhibits reuptake of serotonin and norepinephrine
-s/e: anticholinergic effects (dry mouth, constipation, urinary retention), fatigue, cardiac arrhythmias
Side effects dopamine reuptake inhibitors (buproprion)
-blocks reuptake of NE and DA
-s/e: irritability, insomnia, motor tics, decreased seizure threshold at high doses
S/E of systemic glucocorticoids?
-most sxs are mild and reversible for short duration tx; worse with chronic use
-emotional lability, hypo-mania, mania, depression, psychosis, delirium, confusion, sleep issues (roid rage?)
S/e of beta-agonists (albuterol for asthma)?
-excitement/hyperactive, nervousness, tremor, HA, insomnia, anxiety
S/e of alpha-agonists (guanfacine, clonidine)?
sedation, depression, bradycardia, HA, fatigue
S/e of stimulants?
-psychosis - rare develop symptoms (hallucinations, delusional thinking, mania)
-tics: new onset or worsening of tics in children with existing tic d/o
-tics are c/i for some formulations of methylphenidate
-sleep disturbance, jitteriness, emotional lability, including social withdrawal
premature infants
IVH grades 1?
IVH grade 1: uni/bilateral hemorrhage in germinal matrix (<10%); ventricular area
premature infants
IVH grades 2?
10-50% hemorrhage of ventricular area (w/o ventricular dilation)
premature infants
IVH grades 3?
ventricular dilation, with at least 50% occupied by hemorrhage; might see periventricular echo-densities
premature infants
IVH grades 4?
hemorrhage going into parenchyma; likely cystic PVL
what is PVL (periventricular leukomalacia)?
-if extensive damage in fronto-pareital and frontal-parietal-occipital regions worse the developmental outcomes
-if PVL at 40 weeks then leads to poor developmental outcomes
-cerebral palsy increases with decrease in birth weight
Increased risk of which developmental/behavioral outcomes due to prematurity?
- IVH
- hydrocephalus
- cerebral palsy
- bronchopulmonary dysplasia
causes of cerebral palsy?
- unknown etiology
- congenital brain malformations
- neuronal migration disorders
- vascular disturbances
- genetic conditoins
- maternal infections
- other mom factors: perinatal trauma, asphyxia, infection, hemorrhage
sequelae for CP?
-50% have ID
-30% have epilepsy
-12% hearing issue
-36% visual deficit
-24% nonverbal
-26% behavioral problems
-23% sleep disorders
Baby effects due to carbamazepine (tegretol)?
-increase risk of spina bifida, head/face deformations, heart defects
Baby effects due to phenytoin (dilantin)?
fetal hydentoh syndrome (abnormal fingers/toes, developmental delay, cleft palate), microcephaly, brain malformations
Baby effects due to valproate (depakote)?
-increased spina bifida, neural tube defects, hypospadias, heart defects, limb and genetic defects
Baby effects due to warfarin/coumadin?
-low BW, ID, microcephaly, deafness, malformed bones
Baby effects due to cyclophosphamide (cytoxan)?
-IUGR, cranial/eye malformation, hydrocephalus, microtia, hearing defects, craniosynastosis, some limb effects
Baby effects due to lead?
decrease cognitive ability, increased behavior concerns
Baby effects due to lithium?
ebstein’s anomaly (tricuspid valve separating right chambers is malformed and doens’t close); lower IQ
Baby effects due to thalidomide?
phocomelia (rare congenital deformity where hands or feet are attached to trunk); no longer used
Baby effects of opioids?
neonatal abstinence syndrome, small growth, behavior issues
Baby effects of cocaine?
-preterm delivery, SGA, decrease in cognitive and increase in behaviors
Baby effects of methamphetamines?
-SGA, increase risk of neuro-developmental issues
Features of Fetal Alcohol Syndrome?
-it’s dose-dependent and depends on time of exposure during pregnancy
-no single anomaly is unique or pathogenic but due to combination of features
Features:
1. growth deficiency; <3% of growth
2. facial features: short palpebral fissue, flat philtrum, thin upper vermillion lip borders
3. CNS issue: microcephaly, behavior/cognitive challenges
Neurobehavioral issues with Fetal alcohol?
-increase ADHD, SLD, executive function, visual-spatial, impulse control, language, memory, social and problem solving deficits
-usually DD; motor skills poor
-sleep disturbance
-most common: ADHD
-stimulant med effect is variable in FASD due to dopamine levels in brain; alcohol can cause under or overproduction of DA which produce sxs of ADHD
Symptoms of neonatal abstience syndrome?
-from opioid withdrawal
-tremors, fussiness, tachypnea, sleep disorder with constant yawning
Prenatal infection work up?
-blood cultures, standard labs
-CXR
-ampicillin and gentamicin, consider acyclovir
-common infections: GBS, HIb, E.Coli, Listeria, HSV
Early symptoms of congenital syphillis?
early sxs: fever, low weight, inflammation umbilical cord, anemia, hepatomegaly, shed skin on palms (desquamation), rhinitis (snuffles), choreoretinitis
Late symptoms of congenital syphillis?
bone pain, retinitis pigmentosa, Hutchinson triad (upper central incisor, interstitual keratitis/blurred vision and tearing, 8th nerve deafness, saddle nose, Saber shins)
HSV skin eye mouth (SEM) disease?
45% SEM; skin vesicles around musocal surfaces
Disseminated HSV?
increased death (25%) long term effects
CNS disease with HSV?
38% of cases; poor outcomes; infants with hypothermia, seizures, temporal lobe bleeding
VZV in babies?
limb anormalities, hypertrophic skin, microphthalmia, pendular nystagmus, brain malformations
Features of CMV disease in babies?
microcephaly, retinitis, PERIVENTRICULAR calcification, SNHL, rash, large liver and spleen
-transmit thru placenta, contaminated birth canal, breast milk
Features of congenital rubella?
-IUGR, microcephaly, cardiac issues (PDA, pulmonary artery stenosis), large liver and spleen, dermal erythropoiesis (blueberry muffin rash), cataracts//retinopathy, SNHL
Features of toxoplasmosis infection?
triad: Chorioretinitis, hydrocephalus, intracranial calcifications (ring-enhancing), petechiae, purpura (blueberry muffin)
Risks for babies of Type 1 Diabetes mothers?
-lower cognitive scores
-cardiac defects: transposition of the great arteries (TGA), double outlet right ventricle (DORV), ventricular septal defect (VSD), truncus arteriosus, tricuspid atresia, patent ductus arteriosus (PDA)
-CNS: anencephaly, spina bifida 13-20x more frequent
-caudal regression syndrome (complete regression of sacrum and some lumbar vertebrae)
-flexion contracture of limbs, vertebral anomalies, cleft palate, intestional issues like small left colon syndrome
Neonatal hypoxic-ischemic encephalopathy (asphyxia) criteria?
- metabolic acidosis pH <7 (in umbilical cord)
- base deficit -12
- APGAR score 5 at 10 minutes with continued need for resuscitation
- multiple-organ system failures
- encephalopathy (hypotonia, abnormal oculomotor/pupillary movements, weak or absent suck, apnea, hyperpnea, clinical seizures)
- neurological findings that cannot be due to some other cause like inborn errors of metabolism/genetic d/o
Causes of Down Syndrome?
mosaicism or translocation of chromosome 21
-do karyotype at birth
95% of Down syndrome cases are due to ?
nondisjunction occuring during meiosis I
4-5% of kids w/ T21 is due to unbalanced translocation; not affected by maternal age; inherited or de novo mutation
-most translocations affect chromosome 14 and 21
-if found in infants then both parents should be tested for balanced translocation and if positive then counsel for future pregnancy
most significant risk factor for Trisomy 21?
advanced maternal age
(8x increase in women >40 years)
Management of Trisomy 21?
newborn:
1. audiology every 6 months until age 4-5 years
2. echo
3. optho
4. labs: CBC, Hgb (annual, CRP and ferritin if low Hgb)
5. TSH
infant:
1. swallow assessment
2. ophth
3. TSH - repeat at 6 month and 12 month of life, then annually
child:
1. audio: aged 3-5 years have serious otitis
2. eye exam
3. TSH annually after age 2 years
4. celiac: tissue transglutaminas immunoglobulin A (tT-IgA)
5. sleep study: do by ae 4 years
Most common GI complication in Trisomy 21?
duodenal atresia or stenosis, annular pancreas
Genetic tests for Fragile X syndrome?
- Southern blot analysis test: determines if gene has a full mutation, its size, and whether gene has been methylated, or if mosaicism of gene
- PCR analysis: determine actual number of CGG repeats; it’s less expensive and quicker than Southern blot (not used currently though)
Male features of Fragile X?
-tall stature
-macrocephaly
-behavior/developmental delay
-later child: long narrow face with prominent forehead and protuberant ears; macro-orchidism in 80%
-boys have moderate to severe ID, IQ < 55
Fragile X tremor ataxia syndrome?
-develops in 1/2 of men and 10% of women who are premutation carriers of Fragile X
-sxs appear after 50-60 years
-sxs: ataxia, tremor, lower extremity enruopathy, mood lability, cognitive decline
Features of Rett syndrome?
-initial normal development for first 6-18 months of life; then brief plateau in skills
-second: rapid regression in language and motor skills
*purposeful fine motor hand movements are replaced by rhythmic hand wriging
*bruxism, apnea, hypernea, seizures, gait ataxia, tremors
*deceleration in head circumference
-third: late, plateau during whcih the neurologic losses stabilize
*begins at age 5- 7ears & go into adulthood
*apraxia, motor problems is most prominent symptoms
*seizures in 90%
-final: late motor deterioration with decreased or lost mobility; can develop dystonia, poor or hand deformities, scoliosis; no further decline in cognitive/communication/fine motor skills
Gene mutation in Rett syndrome?
MECP2 gene deletions/mutations in blood DNA analysis
Features of Trisomy 13?
Classic triad:
-micro-anophthalmia (absence of eyes)
-cleft lip/palate
-postaxial polydactylyl
Abnormalities in >50%:
-holoprosencephaly (incomplete forebrain development, olfactory, optic nerves), severe ID, deafness, cutis aplasia (missing skin in parts of body)
-craniofacial: abnormal ears, missing eyes, colobomata, sloping forehead (fissure or cleft of iris, ciliary body)
-skin/limbs: capillary hemangiomata, simian crease, hyperconvex fingernails, polydactylyl)
-cardiac: in 80% of patients including VSD, PDA, ASD
-GI: omphalocele, cryotorchidism, bicornuate uterus in females
Life expectancy for Trisomy 13?
-median survival is 7 days; 91% die in first year
-if survive then severe/profound ID, seizures, FTT
Features of Trisomy 18?
-intrauterine growth restriction, small mouth, micrognathia, pointy ears, horseshoe kidney, flexed fingers with index finger overlapping 3rd and 5th finger overlapping 4th
-Congenital heart in 50% (VSD, PDA)
-GI: Meckel’s diverticulum, malrotation
-rocker bottom feet
Life expectancy of Trisomy 18?
-50% die within first 2 weeks; 5-10% survive first year
-severe/profound ID in >1 year survivors with major medical issues
Features of William syndrome?
-midl to moderate ID
-verbal & memory is better than visual-spatial percpetion
-often social and overly friendly with strangers
-behavior issues: anxiety, ADHD
-periorbital fullness, wide mouth, full lips, long philtrum, small chin, stature
-stellate iris
-musical talent, hyperacusis, idiopathic hypercalcemia
-superaortic valve stenosis (70%)
Medical complications for Williams?
-increased risk of heart attack, acute heart deteroriation, sudden death
-super-aortic valve stenosis 70%
-renal issues: increased calcium, renal artery stenosis
Lab testing for William syndrome?
FISH 7q11.23
-can also pick up with microarray due ot microdeletion of 7q11
-ELN gene that codes for elastin
Developmental issues with Prader Willi Syndrome?
-significant motor delays
-GDD in infancy
-mild to moderate ID and adaptive skill delays
-extreme rigidity and persistent tantrum behaviors in early childhood
-comorbidity of ADHD and autism
-over-eating with food
-perseverative speech and compulsive skin picking
genetic cause of Prader Willi?
LOSS of paternal gene expression in 15q11-q13
-can be due to microdeletion in paternally derived chromosome (65-70% of cases), or maternal uniparental disomy (30%) or imprinting errors
genetic test for Prader Willi?
CGH + SNP to start
-best test methylation studies can unequivocally identify PWS but not the type of gene issues (UPD, imprinting)
-FISH can detect the 15q11 microdeletion but won’t be able to tell if PWS or Angelman
Prader Willi syndrome progression?
birth to 2 year: significant hypotonia with poor suck, FTT/poor weight gain
2-6 yr: congenital hypotonia that persists, GDD
6-12 year: GDD, excessive eating (hyperphagia, obsession with food)
13 yr+: cognitive delay (mild ID), hyperphagia with central obesity, hypothalamic hypogonadism (central apnea, poor temp control, GH deficiency, hypothyroid, adrenal insufficiency), temper tantrum, OCD features
Features of Angelman syndrome?
-neonatal hypertonia
-gait ataxia
-severe language delay
-seizures
-appear happy, always laughing smiling and excitable
Features of PWS?
-narrow forehead, almond shaped eyes, triangular mouth, short stature, small hands and feet
-FTT in infancy and obesity as adults
-sometimes fair skin and light colored hair
-underdeveloped genitals
Features of Angelman syndrome?
-happy, excitalbe children
-hand flapping
-ataxia
-coarse skin, fair hair
-scoliosis
22q11.2 deletion syndrome features?
triad of cono-truncal cardiac anomalies, hypoplastic thymus, hypocalcemia
Work up for 22q11.2 deletion syndrome?
-cardiac echo
-serum calcium and phosphorus levels
-CBC to eval for lymphopenia
-CXR for absence of thymic shadow
-renal US to assess for GU abnormalities
-T and B cell subsets by fluorescence-activated cell sorting
-immunoglobulin levels
Genetic testing for 22q11.2 deletion syndrome?
FISH or CGH
facial features for 22q11.2 deletion syndrome?
-cleft palate
-cardiac anomalies
-cervical spine anomalies
-pierre robin sequence
genetic testing for Smith-Magenis syndrome?
-CGH or FISH
-deletion of chromosome band 17p11.2
findings in Smith-Magenis syndrome?
-brachycephaly
-midface hypoplasia
-prognathism (bulging lower jaw)
-myopia
-cleft palate
-short stature
-severe behavior issues
-ID
-late in life: frontal prominence, hoarse/deep voice, coarse facial features like heavy brows/unibrow/bulging lower jaw
-behaviors: self-hugging, pulling on fingernails/toenails, insertion of foreign objects into body, sleep issues, hyperactive/aggressive, SIB
Diagnostic criteria for NF-1?
2 of 7 features
- 6 or more cafe au lait macules >5 mm in greatest diameter in prepubertal individuals and larger than 15 mm in greatest diameter in postpubertal individuals
- axillary or inguinal freckling
- 2 or more Iris Lisch nodules
- 2 or more neurofibromas or 1 plexiform neurofibroma
- distinctive osseous lesions (sphenoid dysplasia or cortical thinning or long bones)
- optic gliomas
- a 1st degree relative with NF-1
Diagnostic criteria for NF-2?
1 of 4 criteria meet
- bilateral vestibular schwannomas
- parent, sibling, or child with NF-2 AND either a unilateral vestibular schwannoma OR any 2 of the following: meningioma, schwannoma, glioma, neurofibromas, posterior subscapular lenticular opacities
- unilateral vestibular schwannoma AND any 2: meningioma, schwannoma, glioma, neurofibromas, posterior subscapular lenticular opacities
- multiple meningiomas (2 or more) and unilateral vestibular schwannoma or any of 2 of the following: schwannoma, glioma, neurofibroma, cataract
Medical Problems for NF-1?
- learning disabilites
- seizures
- moyamoya syndrome
- precocious puberty
- malignant neoplasm - pheochromocytoma, rhabdomyosarcoma, leukemia, Wilms tumor higher than in the general population
- scoliosis
- at risk for HTN from renal vascular stenosis or pheochromocytoma
Medical Problems for NF-2?
- tinnitus, hearing loss, facial weakness, HA, unsteadiness
-may get cerebellopontine angle mass are most commonly present in 20s nad 30’s - neurologic lesions as above in diagnostic criteria
- ophthalmologic lesions to include cataract, retinal hamartomas, epiretinal membranes
- cutaneous lesions: skin tumors, skin plaques, subcutaneous tumors, intradermal tumors
Developmental issues for NF-1?
-ID
-learning disorders
-ADHD
-executive function deficits
-ASD
-DCD
-seizures
-sleep disruption
Developmental issues for NF-2?
-no association between NF-2 and developmental conditions/disorders
Gene mutation in Tuberous sclerosis?
-TSC1 and TSC2 genes that code hamartin and tuberin
-autosomal dominant, variable expression
Diagnostic criteria for Tuberous sclerosis?
-at least 2 of major criteria and 1 major + 2 minor criteria
Major criteria:
-cortical tuber
-subependymal nodule
-subependymal giant cell astrocytoma
-facial angiofibroma or forehead plaque
-ungual or periungal fibroma
-hypomelanotic macules (>3)
-shagreen patch (large , rough, untanned leather like skin patch)
-multiple retinal hamartomas
-cardia rhabdomyoma
-renal angiomyolipoma
-pulmonary lymphangioleiomyomatosis
Minor criteria:
-cerebral white matter migration lines
-multiple dental pits
-gingival fibromas
-bone cysts
-retinal achromatic patch
-confetti skin lesions
-nonrenal hamartomas
-multiple renal cysts
-do MRI every 1-3 years
Developmental issues for tuberous sclerosis?
-ADHD (50%)
-aggressive behaviors
-cognitive delay
-ASD
-SLD
-Self injurious behaviors
-visual-spatial problems
-
Medical issues with tuberous sclerosis?
-epilepsy
-in infancy can have infantile spasms and hypsarrhythmic EEG pattern
-retinal hamartomas in 90%
-multiple dental pits on permanent teeth and gingival fibromas (fleshy growths on gums)
-CNS manifestations depend on the brain growns (cortical tubers, supepenydmal nodules)
-can get obstructive hydrocephalus, cranial nerve palsies, motor and sensory issues if tumors block certain areas
-renal issues cause the most deaths in TS patients; angiomyolipomas can rupture aneurysms and cause retroperitonal hemorrhage; polycystic kidney disease can cause HTN and renal failure
Sturge-Weber syndrome features?
-vascular disorder
-GNAQ gene mutation
-port-wine stain at birth
-glaucoma
-ID, severe SLD, intractable epilepsy
Incontinentia Pigmenti features?
-IKBKG gene; x-inactivation of an x-linked dominant gene
-lethal in males
-intellectual disability
-4 phases of disease
4 phases of incontinentia pigmenti?
phase 1: at birth get erythematous linear streaks, resolves around 4 months; lesions can be confused for herpes simplex, vesicles present
phase 2: blisters resolve adn become verrucous plaques, involute around 6 mo
phase 3: pigmentary stage, hyperpigmentation in macular whorls, fade in adolescence
phase 4: hairless, anhirotic, hypopigmented patches or streaks
-dental issues: late dentition, conical teeth, hypodontia
-eye issues: neovascularization, microphthalmos, optic nerve atrophy, cataracts
-seizures
Phenylketonuria (PKU) gene mutation?
-inborn error of metabolism caused by mutation of phenylalanine hydroxylase (PAR) gene
-get reduction in rate of conversation of phenylalanine to tyrosine
-high phenylalanine levels are toxic to brain
-autosomal recessive
Types of PKU?
- classic PKU: PAH severely reduced or absent
- variant PKU: some enzyme activity
- non-PKU hyperphenylalanemia
Risk for infants with PKU?
-ID, low birth weight, poor growth, heart defects, microcephaly, behavior problems
Treatment for PKU?
-low phenylalanine diet
-how well you do for ID, attention and psychiatric illnesses is dependent on control of blood phenylalanine levels and timing of treatment
-life-long tx is recommended
-if pregnant then control PHA levels to 150-250mmol/L; supplement tyrosine ,DHA/essential fat supplementation
Physical features of PKU?
-progressive brain damage and ID
-musty or mouse-like odor
-light skin and hair
-skin disorders (eczema)
-if untreated PKU then severe behavioral disturbances like psychotic, autistic, aggressive B
What are mucopolysaccharidoses (MPS) disorders?
rare, inherited lysosomal storage disorders
caused by mutation in lysosomal enzymes involved in degrading glycosaminoglycans (GAGs)
Features of MPS disorders?
-impaired cognitive abilities, difficulties in language and speech, behavior, sleep problems
-can show autistic-like behavior
-MPS I and MPS IH/S (intermediate phenotype) show mild/no cognitive impairment, mild somatic sxs, slower disease progression
MPS I feature?
-early delay in attainment of motor skills, progressive orthopedic manifestations, peripheral neuropathy
-usually social, compliant, featful
MPS II (rapidly progressing) features?
-develops severe language and speech delays
-hearing loss almost universal
-hyperactivity, frustration, impulsivity, behavior issues
-50% have perseverative chewing behaviors
-sleep problems
MPS III or Sanfilippo syndrome features?
-severe neuro manifestations and only mild somatic involvement
-at age 3 years get rapid decline in cognitive abilities
-speech/language delay
-hearing loss
-aquire adaptive skills until age 4 years and then lose them
Physical features of MPS?
-coarse facial features
-short stature
-skeletal abnormalities
-thick skin
-enlarged liver and spleen
-excessive body hair
-DD/ID
-visual issue
-hearing issue
What are glycosaminoglycans (mucopolysaccharides that get degraded in MPS lysosomal storage disorders)?
GAGs are long chains of sugar carbohydrates that help build bone, cartilage, tendons, skin, corneas, and connective tissue
GAGs (chondroitin, heparan, dermatan, keratan sulfates) accumulate in lysosomes leading to permanent, progressive cellular damage affecting appearance, physical abilities, organ functioning, often mental development
Diseases of purine metabolism?
-rare, inherited disorder cause by deficiency of enzyme hypoxanthine-guanine phospho-ribosyltransferase (HPRT) that recycles purines
-lack of HPRT causes build-up of uric acid in all body fluids
-X-linked disease
How do you test for Lesch-Nyhan syndrome?
-elevated serum and urine uric acid levels
-macrocytic anemia (Vit B12, folate, iron usually normal)
-HPRT (hypoxanthine guanine phospho-ribosyltranferase) enzyme activity in blood or tissue for recycling purines
-ID of genetic mutation in HPRT gene
What are physical features of Lesch-Nyhan syndrome?
-dystonia/spasticity
-growth failure
-moderate DD/ID (age 3-12 months: delayed motor development with hypotonia, 6-18 months abnormal involuntary movements and spasticity)
-aggressive, impulsive behaviors
-self-mutilation
-arthritis
-renal failure
Most striking feature of Lesch-Nyhan syndrome?
-self-mutilating behaviors (biting lips and fingers)
-abnormal high uric acid levels cause sodium urate crystals in joints, kidneys, CNS so get gout-like swelling in joints and bad kidneys
Treatment of Lesch-Nyhan syndrome?
-gout tx with allopurinol to control uric acid
-tx kidney stones with lithotripsy
-no tx for CNS
-can use some meds like benzos, gabapentin, neuroleptics
-poor prognosis
-death due to renal failure in 10-20 years
HIV/AIDs effects for children?
-acute encephalopathy
-DD or regression
-mild ot moderate cortical atrophy
-learning disabilities
-ADHD
-treatments like zidovudine or anti-retroviral agents can cause neoplasia, organ system toxicities, mitochondrial dysfunction
What is cortical visual impairment?
temporary or permanent visual impairment caused by disturbance of posterior visual pathways and/or occipital lobes of brain
diagnosed when child has poor or no visual response and yet has normal pupillary reactions and a normal eye exam; eye movements are normal
Causes of cortical visual impairment?
asphyxia, perinatal hypoxia ischemia, developmental brain defects, head injury, hydrocephalus, infections of CNS, meningitis and encephalitis
initially kids with CVI appear blind but their vision tends to improve
Conductive hearing loss audiogram features?
-dx’ed when air conduction thresholds are >10 dBHL worse than bone conduction thresholds & bone conduction thresholds fall within the normal hearing range but air conduction thresholds do not.
-conductive hearing loss is when the issue is in the outer or middle ear & not the inner ear (remains intact)
Sensorineural hearing loss audiogram features?
difference between air and bone conduction thresholds is <10 dBHL; due to damage of inner ear in presence of normal functioning outer and middle ear
Causes of conductive hearing loss?
- Congenital: microtia/atresia, TM abnormalities, ossicular malformations
- Acquired: Infection (AOM, OE), otitis media with effusion, foreign body (ear wax), cholesteatoma, trauma (TM perforation)
Causes of SNHL?
- Congenital
-genetic d/o (syndrome, connexin 26, mitochondrial)
-in utero infxn (CMS, Measles, Mumps, Rubella, Varicella, Syphillis)
-anatomic anomalies of cochlea or temporal bone
-exposure to ototoxic drugs like alcohol, isotretinoin, cisplatinum
-hyperbili - Acquired:
-infections (bacterial meningitis, MMR, lyme disease)
-trauma
-radiation therapy for head neck tumors
-demyelinating disorders (Alport)
Thyroid gland function?
synthesize T3 and T4 thyroid hormones
-need dietary iodine for this syntehsis
-by 10-12 weeks gestation, fetal hypothalamic-pituitary-thyroid system can concentrate iodine and syntehsize iodothyronine
Early sxs of Congenital hypothyroidism?
-occurs 2x/ more in girls
-asymptomatic at birth (due to transplacental passage of maternal T4)
-early signs: increased head size, prolonged physiological icterus, weak cry, excess sleepy, constipation, low body temp, low HR, cardiomegaly or asymptomatic pericardial effusion, large abdomen with umbilical hernia, feeding difficulties, respiratory issues due to large tongue, cold/mottled skin, edema of genitals/hands/feet, anemia
Later sxs of congenital hypothyroidism?
-short extremities
-wide open fontanelle
-eyes far apart, narrow palpebral fissure, swollen eyelids
-depressed nasal bridge
-open mouth with thick/large tongue
-short, thick neck
-broad hands and short fingers
-dry scaly skin with little sweating
-myxedema - of eyelids, backs of hands and genitalia
-yellow skin but white sclera
-hair (minimal but coarse and brittle)
-delayed cognitive development
-lethargy
-hoarse voice
-hypotonic
-delayed motor and language
Acquired hypothyroidism sxs?
-most common cause, lymphocytic thyroiditis
-usually in adolescents but can start as early as age 2 yrs
-first clinical sxs: deceleration of growth
-Other sxs:
-decreased energy
-myxedematous changes in skin
-constipation
-cold intolerance
-increased need for sleep
-delayed osseous maturation
-no cognitive issues
-sxs reversed with tx
Deficiency from Vitamin A?
-sxs: mental retardation, physicla growth issues, eyes
Overdose of Vitamin A?
acute: n/v, drowsy, cranial nerve palsies, diplopia, papilledema
chronic: poor wt gain, irritable, tender swelling of bones, HSM, increase ICP
Sxs of Vitamin b1 (thiamine) deficiency?
-fatigue, irritability, depression, poor concentration, nausea, peripheral neuritis with tingling, paresthesias of toes/feet, later heart failure, ptosis, optic nerve atrophy, ataxia, coma
Sxs of Vitamin B2 deficiency (riboflavin)?
-glossitis (tongue swelling), anemia, eye and skin changes
Sxs of Vitamin B3 deficiency (niacin)?
early: anorexia, burning sensation, weakness, numbness
later: dermatitis, diarrhea, dementia (delirious, depression, insomnia)
Toxicity from Vitamin B3 niacin?
-flushing, wheezing, increased blood flow in brain, HA, abnormal liver fx with liver toxicity
Deficiency of Vitamin B6 pyridoxine?
in infants: irritable, convulsions
older kids: peripheral neuritis, dermatitis, anemia
Overdose of Vitamin B6 pyridoxine?
neuropathies (burning pain, parastesia, ataxia, clumsy, paralysis, perioral numbness, can’t figure out vibration or position)
Biotin deficiency?
somnolence, hallucinations, hyperesthesia
due to biotinase deficiency, propionic acidemia
Folic Acid deficiency sxs?
-megaloblastic anemia, irritable, failure to gain wt, chronic diarrhea
-neural tube defects in pregnancy
Vitamin B12 deficiency?
-macrocytic anemia
-weakness, anorexia, irritable, smooth tongue (red and painful), ataxia, hyperreflexia, clonus
-if congenital then autosomal recessive d/o
-maybe due to surgery with stomach or terminal ileum and lack intrinsic factor in stomach
Deficiency of Vitamin C (ascorbic acid)
scurvy, irritable, bleeding gums, tender legs, delayed wound healing, anemiaV
Vitamin D deficiency?
Rickets
-anterior fontanelle larger and late to close
-large head
-teeth enamel defects
-bone changes
-poor muscle/poor tone
late sxs: tetany, carpopedal spasm, laryngospasm, sz due to low calcium
Vitamin K deficiency?
-hypothrombinemia and decreased liver syntehsis leading to bleeding in newborns (vitamin K shot needed)
