SLP Praxis: Genetic Syndromes

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