SLP Praxis: Genetic Syndromes Latest Update Graded A+

SLP Praxis: Genetic Syndromes Latest Update Graded A+ Angelman Syndrome Chromosome 15 seizures, stiff and jerky gait, laughter and happy demeanor, excitable, short attention span, No or few words; nonverbals and verbal receptive skills much higher than expressive skills Apert Syndrome syndactyly, craniosynostosis, midfacial hypoplasia, cleft 25-30% of time conductive hearing loss sometimes, hyponasality, artic (s,z,f,v) normal intelligence sometimes, sometimes mild to moderate intellectual disability Cri du Chat Syndrome Absence of short arm of 5th chromosome high-pitched cry in infants low-set ears, narrow oral cavity, laryngeal hypoplasia, microcephaly, hypertelorism, micrognathia, oral clefts. Artic and language disorders associated with intellectual disability Crouzon Syndrome Autosomal dominant craniosynostosis (especially coronal), hypoplasia of midface, maxilla, or both, hypertelorism, facial assymetry, high arched palate, shllow oropharynx, long and thick soft palate, brachycephaly conductive HL sometimes, artic disorders, hyponasality, and language disorders Down Syndrome extra chromosome 21 hypotonia, small ears, nose, and chin, midface dysplasia, narrow high arched palate, macroglossia, conductive loss often, sometimes sensorineural, language delays, especially deficient syntax and morphological features, relatively better vocab Fragile X Syndrome FMR1 gene has lots of repetitions of CGG large, long pinna, big jaw, enlarged testes, high forehead. ID (leading inherited cause of ID in males) mild-mod in children, more severe in adulthood Jargon, perseveration, echolalia, inappropriate language, lack of gestures and other nonverbals, voice and artic disorders. Autistic-like social deficiencies Hurler's Syndrome Autosomal recessive deficiency. Most die by age 10. Called "gargoylism" in 1800's Dwarfism, hunchback, ID, short and thick bones, low nasal bridge, sensorineural deafness, noisy respiration Thick lips, large tongue, small, malformed teeth Artic problems, vocal fatigue and hoarseness Landau-Kleffner Syndrome Unknown cause of aphasia Formerly healthy 3-7 yr-old kids lose their ability to comprehend language and then speak it Some have severe, permanent language disorders. Many regain it over months or years. 80% develop epilepsy. Some have hyperactivity, agressiveness, and depression Marfan Syndrome Autosomal Dominant caused by mutations in FBN1 Bone overgrowth and loose joints. overgrowth of ribs can cause sternum to bend inward or push outward. Intelligence not affected. 70% have restrictive lung disease, so the chest can't fully expand. -> shortness of breath during speech Moebius Syndrome sometimes autosomal dominant, agenesis or aplasia of motor nuclei of cranial nerves Facial and hypoglossal and sometimes trigeminal nerve involvement. Decreased articulatory speed, range and strength Mild to severe artic disorders, with bilabial, linguadental, and lingua-alveolar sounds most affected. sometimes conductive HL and delayed language Pierre-Robin Syndrome Most cases autosomal recessive inheritance, sometimes Stickler syndrome (autosomal dominant inheritance) Mandibular hypoplasia, soft palate cleft, VPI, deformed pinna, low-set ears, ossicular chain deformities, posteriorly-positioned tongue, blocking airway and pharynx Feeding problems (many infants need N-G tube or G-tube) unilateral or bilateral conductive hearing loss associated with otitis media and cleft palate, delayed language, and language disorders, hypernasality and nasal emission, artic disorders, and hypercompensatory articulation Prader-Willi Syndrome Autosomal dominant inheritance (chromosome 15) Hypotonia, altered growth of larynx, narrow overjet, micrognathia, narrow palatal arch, tooth decay, cognitive sequencing problems, behavioral disturbances ID, impared expressive and receptive language skills, especially expressive delays Imprecise artic, oral-motor difficulties, hypernasality, sometimes flat intonation, slow speaking rate, harsh or hoarse vocal quality, abnormal vocal pitch. Russell-Silver Syndrome Unknown etiology Low birth weight, dwarfism, asymmetry of arms or legs, large head, craniofacial disproportion, mandibular hypoplasia, high, narrow palate, microdontia Hypernasality, infant feeding problems, artic disorders, expressive and receptive language disorders, abnormally high-pitched voice Treacher Collins Syndrome Autosomal dominant, sometimes spontaneous mutation underdeveloped facial bones, mandibular hypoplasia, cheek hypoplasia, dental malocclusion, hypoplasia, high hard palate, cleft palate in about 30% of cases congenital, bilateral, conductive HL, sometimes sensorineural loss, hypernasality and nasal emission, artic disorders Trisomy 13 extra copy of chromosome 13 birth defecits. congenital heart defects, brain anomalies, spina bifida, severe eye defects, cleft lip and palate, polydactyly. many have midline facial deformities and cleft lip -> indicates holoprosencephaly (failure of brain to divide into 2 hemispheres. Many die in first year. Others have profound ID and feeding difficulties which require nasogastric feeding Turner Syndrome Females with a missing or deformed X chromosome No menstruation or fertility, cardiac deficits, narrow maxilla and palate, micrognathia, low-set, elongated, cup-shaped ears, thick earlobes, high arched palate, sometimes cleft palate, R hemisphere dysfunction Sensorineural HL in many cases (usually after 10th year), middle ear infections, conductive loss sometimes, language and artic disorders with HL, visual, spatial, and attentional problems Velocardiofacial Syndrome (Shprintzen syndrome) (DiGeorge sequence) Most commonly associated with cleft palate Autosomal dominant Often middle ear infections, learning problems, speech and feeding problems, and unique facial characteristics. Usually cleft palate and/or velopharyngeal insufficiencies Intelligence usually low-normal range Feeding problems and failure to thrive (pharyngeal hypotonia, oral apraxia, laryngeal and vasucalr anomalies, and nasal regurgitation and nasalvomiting) Williams Syndrome Chromosome 7 (elastin protein) (elfin-face syndrome) small boned and short, with long upper lip, wide mouth, full lips, small chin, upturned nose, puffiness around eyes. IQ between 50 and 70 Narrowed pulmonary arteries and narrowed aorta Dental occlusion, small, widely spaced teeth