Features same as Crouzons: premature closure of cranial sutures, ocular hypertelorism, parrot nose, maxillary hypoplasia, V-shaped palate, hypodontia
Unique Features: syndactyly (esp fused fingers), often MR, not usu hereditary, 30% - cleft of soft palate, delayed/ectopic eruption, shovel-shaped incisors
Most common neurobehavioral disorder in kids, usu presents by 7yo, 9%male, 3%female
Etiology: genetic, small brain, nt defects, environ toxins, head injury, CA
Subtypes: inattentive, hyperactive, combined.
Often have low self-esteen and increased aggression
Dx: specific criteria of beh sx & fcnal in >= 2 environ
Tx: Stimulants (methylphenidate, dextroamphetamine) strattera, clonidine. Also behavioral, home & classroom to increase + beh & decrease - beh, time out, response-cost, token economy
F/u: with MD if 3-6 target goals met
Methylphenidate (ritalin, concerta): CNS stimulant, xerostomia risk. Systemic: increases HR, nervous, anorexia, insomnia, incr TCA effects
Dextro-amphetamine (adderal, vyvanse): CNS stimulant. Xerostomia, altered taste, & bruxism risk. MEPERIDINE (DEMEROL) CONTRAINDICATED. Systemic: htn, nervous, insomnia, anorexia, incr TCA effects
All can cause xerostomia
CARBAMAZEPINE (tegretol): mood stabilizer, anticonvul, antiaggress, stomatitis/glossitis
CLONIDINE: calm, hyperactivity, dec. impulsivity, dysphagia/sialadentitis
FLUOXETINE (prozac): dec. repetitive thoughts, compulsive beh, & anxiety. Altered taste, bruxism, sialadentitis, stomatitis/glossitis, gingivitis, jaw pain
METHYLPHENIDATE (ritalin, concerta): calm hyperactivity, inc. attention
OLANZAPINE (zyprexa): antipsychotic, antiaggression, dysphagia, stomatitis, gingivitis, edema
RISPERIDONE (risperdal): antipsychotic, antiaggression, dysphagia, altered taste, stomatitis, discolored tongue, gingivitis, tongue edema
Risks for uncoop beh: <4yo, can't read, not toilet-trained, concurrent med dx, no expressive language.
Desensitization: start w/ least anxiety-producing.
Sedation: knowing psychotropic agents may have unusual side effects.
SPECIFICS: short&simple sentences, music as aid, parents to help communicate, move pts limbs when showing how to brush, familiar environ w/ same people/room, ask parent to rehearse at home, short/repetitive visits, no sound distractions, end on + note w/ procedure pt can coop for.
Non-progressive malformation of motor centers & pathways of brain.
Assoc: 60% MR, 40% seizures, 35% sensory deficits, speech disorders, hearing loss, beh problems.
Sx: paralysis, weakness, incoordination/dysfcn of motor fcn.
Dx: posturing/abnl mvmt, oropharyngeal prob, strabismus, high/low msl tone, evolutional/primitive responses, inc deep tendon reflexes.
Hemiparesis (asymm CNS damage, poor balance, scoliosis)
Spastic (stiff msls, contractures, lack of control)
Dyskinetic/athetoid (slow, writihing invol mvmt, hypotonic)
Ataxic (tremors & uncoord voluntary mvmt)
Oral: perio dz, caries, maloccl (inc. OJ), bruxism, erosion, trauma, gag reflex, dysphagia, drooling, mouth breathing, hyperactive bite reflex
Note: tx drooling: botox in submand gland or scoplamine - transdermal.
Dental Care: calm, supportive environ, relax to dec. msl mvmt, consider tx in wheelchair & support for limbs, use MP or finger splints, use RD for restorative, short appt, freq breaks, keep back slightly elevated, forewarn of stimuli, often need premed or GA if extensive tx
Note: may have G-tube, GERD, sucrose in meds. Consider CHX to improve gingival health
Abnl CFTR protein (dec. Cl secretion, inc. Na absorption)
AR. More in whites, 50% die by 30yo.
Exocrine glands produce inc. mucous
Glands most affected: lungs, intestine, reproductive epith)
DX: genetic (pre or postnatal, by 3yo), sweat Cl test
SX: salty skin, no wt gain, abnl bowel mvmt, recurrent wheeze/cough, recurrent pneumonia, nasal polyps, clubbing
ORAL: inc in enamel defects, calculus & saliva pH. Less caries. Gingivitis, mouth breather, intrinsic stains (dz, tetracycline).
TX: chest physio tx 1-3/d. Exercise. Aerosols. Oral abx.
DIGESTION: pancreatic enzymes blocked, not absorb fat/protein. Need enzyme supp, fat-sol vitADEK, iron, & lots of calories.
Forms = continuum based on severity, pervasiveness, mania.
1. Adjustment d/o w/ Depressed Mood: mild, self-limiting.
2. Depression NOS (minor): bad mood, 3sx of major dep
3. Dysthymic d/o - chronic: less sx than major. >1yr.
4. Major Depression: severe. sad/irritable + 5sx of major
Comorbidity: anxiety, ADHD, alcohol/drugs/tobacco, conduct d/o.
Risks: anxiety, - self view, family discord, neglect, family hx
Tx: antidep, cognitive beh tx, interpersonal tx, electroconvul.
course = 3-8mo. recurs 40% in 2 yrs, 70% in 5 yrs.
ADHD meds: stim & non-stim
Antidep: SRIs (prozac, zoloft), TCAs (elavil), MAOIs (nardil)
Antipsychotics: thorazine, haldol, risperdal
Mood Stabilizer: lithium, depakote, tegretol, lamictal, topomax
Anti-anxiety: benzos (xanax, valium), antihist (benedryl, vistaril), atypical (ambien)
Sleep meds: ambien, sonata, benadryl
Random: clonidine (dec. impulse)
Physical: hypotonia, varying MR, inc. heart defects, inc. hypothyroidism, inc. ALL.
PERIO DZ: in 60-100% <30yo. 35% in baby teeth. Mand incisors often affected. Etiology: capillary fragility - poor vascularization of G tissues; PMN chemotaxic defect; Tcell maturation defect due to abnl thymus.
DENT: supernum, microdontia, hypodontia, macroglossia, fissured tongue, taurodonts, cl III tend, inc. caries, delayed eruption, enamel hypoplasia.
Sed/GA: consider 1) atlanto-axial instability, 2) dec. HR, 3) airway challenges
90% female. Onset in teens. Gives pt sense of control.
Risks: strict family, family hx, depression, stress, life change.
ANOREXIA NERVOSA: more heritable, intense fear of weight gain, body image distortion, 40% recover completely, 40% partially recover, 20% ongoing
BULIMIA NERVOSA: 1-4% pop. Purging vs non-purging. At least 2/wk for 3mo. 50% recover completely, 35% partial, 15% ongoing
ORAL w/ Bulimia: enamel erosion, no sensitivity, uni/bilateral parotid gland enlargement in 15%
Malfcning/weak LES; hiatal hernia. 5-7% pop.
SX: chronic heartburn, acid regurg, belching, painful swallowing, chronic sore throat, laryngitis, sour taste.
UN-TX: esoph scars, malig, apnea, chronic cough, asthma, recurrent pneumonia.
DX: hx, 2wk med trial, pH monitor of esoph, barium swallow.
TX: lifestyle mod (upright & no exercise after meal, dec. portion, wt loss), avoid aggravating foods (caffeine, chocolate, mints, spicy, acidic, fried, alcohol), meds (antacids, foaming agents, protein pump inhibitors, prokinetics), surgery (fundoplication (90% cure), electrosurgery)
Very rare congenital disorder, affects growth, cranial dev, hair growth & dental dev.
Features: dyscephaly, thin-beaked nose, hypotrichosis, inc. dwarfism, small palpebral fissures, bilateral congenital catarats.
DENTAL: mandibular & malar hypoplasia, high palatal vault, premature teeth, delayed primary exfoliation, hypodontia.
excess CSF in brain's ventricles. Congenital or acquired.
Imbalance in production/absorption of CSF.
CAUSE: genetic inher, dev d/o (ie spina bifida), head trauma, meningitis, tumors.
SX: rapid inc head size, down-cast eyes, vomiting, seizures, sleepiness, irritability, blurred vision, can't balance.
TX: shunt to drain. VP=ventriculo-peritoneal (to abdomen).
VA=ventriculo-atrial (to RA of heart).
COMPL: infxn, mechanical failure, obstructions
Excess TH (inc. T3, T4 & dec. TSH). Hypermetabolic state.
Most common form = Grave's dz.
SX: inc HR, can't tolerate hot, nervous, jittery, irritable, wt loss, tremors, sweating.
Thyrotoxic crisis: restless, n/v, fever, sweating, inc HR & arrythmia, pulmonary edema, CHF. Then stupor, coma, dec. BP, death.
Complications: osteoporosis, a-fib, htn, CHF.
Decreased T3 & calcitonin. Cretinism (infancy), myxedema (adult). Dec. metabolism. Slowed physical & mental activity (may irreversibly damage young infants).
SX: cold intolerance, dry skin/hair, dec. sweat, lethargy, depression, generalized edema, wt gain. Assoc: anemia.
Myxedema Coma sx: hypotherm, dec. HR & BP, seizures.
DENT: delayed skeletal dev, primary exfol, & perm eruption. Malocclusion, gingival edema, enlarged tongue, thick lips.
Dental Tx: sensitivity to stres, infxn, surgery, & some sedatives/opioids.
Rare inherited disorder, mostly females, evolves in 4 stages, mostly affecting skin, eyes, CNS, & oral.
DENT: Primary & perm. Premature teeth, delayed eruption, hypodontia, conical crowns, cleft lip/palate.
D/o of breathing during sleep: prolonged partial upper airway obstruction that disrupts nl ventilation during sleep.
Note: benign snoring in 10% kids, no obst apnea or freq wake.
SX: nightly snoring, disturbed sleep, daytime neurobeh prob
RISKS: adenotonsillar hypertrophy, obesity, craniofacial abnl, neuromuscular d/o, short mand, inc in black/hispanic.
COMPL: dec learning, beh prob, htn, corpulmonale, death rare
TX: surgical (adenotonsillectomy, uvulopalatoplasty) or non-sx (tx allergiew, wt loss, CPAP)
DENT: beh? sedation risk, mouth-breathing, malocclusion
X-linked. Malformations of face, oral cavity, & digits. Polycystic kidney dz. Variable CNS involvement
MR, syndactyly, hypoplastic alar cartilages, hypotrichosis, brachycephaly
DENT: same as OFD1.
multiple/hyperplastic frenuli, cleft tongue, cleft alveolus & palate, median pseudocleft of upper lip, extra max canines, missing mand laterals
AKA Albright Hereditary Osteodystrophy AKA Acrodysostosis
Rare. Normal PTH, but activating pathway not fcn.
May be 1)mild MR, obesity, short, midface hypoplasia, or 2)clinically appear nl w/ sx of hypocalcemia
DENT: Delayed eruption, oligodontia, enlarged pulp chambers w/ "dagger" pulp stones, short blunted apices, enamel hypoplasia/pitting, abnl dentin apposition.
From localized area of brain.
SIMPLE: no LOC.
motor, autonomic, sensory, psychic symptoms
localized twitching/numbness, smack lips, light flashes
COMPLEX: LOC for 1-2min, may have aura
motor, autonomic, sensory, psychic symptoms
localized twitching/numbness, extreme fear, visual disturb.
confusion continues 1-2min post-ictal
MEDICAL: 1) anticonvulsants. Phenytoin (dilantin), Carbamazepine (tegretol), Gabapentin (neurontin), Valproic acid (depakote), Topimate (topimax), Lamotrigine (lamictal), oxcarbazepine (trileptal), phenobarbital.
2) ketogenic diet (no carbs, lots fat) 3)surgery 4)altern meds
ORAL EVAL: 1) check meds for side effects/interaction of G hyperplasia, G bleeding, xerostomia. 2) GA if poor seizure control. 3) agressive OH. 4) Pt well-rested, anxiety management. 5) Lidocaine dec. seizure threshold. 6) Prone to anterior trauma