GE Flashcards
Chromosome 15 duplicated
Developmental delay (6-12 momths)
Diagnosed (3-7 years)
Symptoms include seizures, stiff and jerky gait, laughter and happy demeanor, easily excitae, hypermotoric, hand-flapping, short attention span
Have few or no words, nonveral communication and receptive skills are higher than verbal expressive
Angelman Syndrome
Caused by spontaneous autosomal dominant mutations
FGR2 at 10q25-26
Physical: smaller anterior-posterior skull diamater, flat frontal and occipital lobes, high forehead
Communication problems include a tendency towards hyponasality, forward carriage of tongue, articulation disorders
Some have normal intelligence while others exhibit mild to mod ID
Apert Syndrome
Caused by an absence of the short arm of the fifth chromosome (5p)
Physical: high-pitched cry of long duration, laryngeal hypoplasia, microcephaly, hypertelorism, oral clefts
Communication problems include articulation and language disorders associated with ID
Cri du Chat syndrome
Caused by autosomal dominant inheritance, with varied expression in individuals
Physical: fusion of cranial suture, especially that of coronal and hypoplasia of midface, maxilla, or both, small maxillary structure, eyes far apart, short head
Communication: conductive hearing loss, articulation disorders, hyponasality, language disorders
Crouzon Syndrome
Caused by an extra whole number chromosome 21, resulting in 47 instead of 46
Physical: generalized hypotonia, flat facial profile, small ears, nose, and chin
Communication: conductive loss in many cases, and sensorineural loss in some; language delays and disorders; deficient syntactic and morphological features; relatively better vocab skills; hypernasality and nasal emission, breathier voice, articulation disorders
Down Syndrome
Leading inherited cause of ID in males
Caused by an expansion of the nucleic acid cytosine-guanine-guanine (CGG) which repeats too often
Physical: large, long, poorly formed pinna, a big jaw, enlarged testes, and a high forehead
Have mood instability, anxiety, seizures, aggressions
Most have ID (mild/mod in childhood to severe in adulthood)
Communication: jargon, perseveration, echolalia, inappropriate language/talking to oneself, lack of gestures and nonverbal communication
Have autistic-like social deficiencies
Fragile X Syndrome
Caused by autosomal recessive deficiency of X-L iduronidase
Most children die in their early teens or before 10 years
Called gargoylism in 1800-1900s
Characterized by dwarfism, hunchback, ID, short and thick bones, vocal fatigue and hoarseness
Compromised intelligibility due to thick, everted lips, large tongue, small malformed teeth
Hurler’s Syndrome (Hurl–gargoyle)
Cause unknown
Rare childhood neurological disorder whereby formerly healthy children ages 3-7 lose their ability to comprehend language and then to speak it
Some are left with severe, permanent language disorders
Landau-Kleffner Syndrome (L-Lose)
Heterogeneous causation
Agenesis or aplasia of the motor nuclei of the cranial nerves
Physical: involvement of facial and hypoglossal nerves and trigeminal in some
Bilabial paresis, weak tongue control, unilateral/bilateral paralysis of abductors of the eye, mask-like face
Communication: conductive hearing loss, delayed language in some, articulation disorders
Moebius Syndrome (Moebius/mask face/matrix)
Caused by autosomal recessive inheritance
May be part of Stickler syndrome
Physical: mandibular hypoplasia, cleft of the soft palate, VPI, deformed pinna and low-set ears
Glossoptosis: tongue is positioned posteriorly, causing blockage of airway and pharynx
Feeding problems are present
Communication: unilateral/bilateral conductive hearing loss, delayed language and artic disorders, hypernasality
Pierre-Robin Syndrome (Robin–low ears, disney)
Caused by autosomal dominant inheritance and deletion in the long arm of chromosome 15 (15q11-15q13)
Physical: low muscle tone, early feeding difficulties, failure to thrive, obesity, excessive eating, underdeveloped genitals
Imprecise articulation, oral-motor difficulties, hypernasality, flat intonation patterns, slow speaking rate, harsh/hoarse vocal quality, abnormal vocal pitch
Developmental delay, ID; impaired receptive/expressive language skills
Hypotonia, altered growth of larynx, tooth decay, cognitive sequencing problems/ID, behavioral disturbances
Prader-Willi Syndrome (Willi–genital problems)
Caused by genetic factors (suspected)
Low birthweight, small for gestational age, considered to have dwarfism
Physical: asymmetry of arms/legs, disproportionally large head, craniofacial disproportion, mandibular hypoplasia, microdontia
Communication: hypernasality, feeding problems, articulation disorders, expressive/receptive language disorders, abnormally high-pitched voice
Russell-Silver Syndrome (Russel Crow)
Caused by autosomal dominant inheritance
Physical: underdeveloped facial bones, dental malocclusions, coloboma of lower eyelid, malformations of pinna, middle and inner ear malformations
Communication: congenital, bilateral, conductive hearing loss and some sensorineural, language disorders; hypernasality, nasal emission, articulation disorder
Treacher Collins Syndrome (Need to hear teacher; hearing loss!)
Extra copy of chromosome 13
Many life-endangering, severe birth effects (congenital heart defects, brain anomalies, spina bifida, cleft lip/palate, extra fingers/toes)
Holoprosencephaly (failure of the brain to divide into two hemispheres)
Many die before first birthday; life with profound ID, feeding difficulties
Trisomy 13
Only affects females caused by a missing or deformed X chromosome
Physical: ovarian abnormality, absence of menstruation and infertility, congenital swelling of feed, neck, and hands, low posterior hairline
Physical: broad chest with widely-spaced nipples, low-set, elongated and cup-shaped ears
Communication: sensorineural hearing loss, middle ear infections, language and articulation disorders, visual, spatial, and attentional problems
Turner Syndrome (Girls)
