Genetics

Angelman Syndrome

Caused by a problem with the UBE3A gene on chromosome 15

symptoms: A happy disposition and unique laugh, Developmental Delays/Learning Disabilities, Limited Speech, Language Challenges

communication: Most children have few or no words; nonverbal communication and verbal receptive skills are higher than verbal expressive skills.

syndrome

constellation of signs and symptoms that are associated with a morbid process

Apert Syndrome

Caused by a mutation in the FGFR2 gene, which is involved in bone development

symptoms: Craniosynostosis, midface hypoplasia, syndactyly (fingers and toes fused together)

communication: Conductive hearing loss, Class III Malocclusion, Arched hard palate, Hyponasality, and Articulation Disorder

Cri du Chat Syndrome

Caused by a missing section on a particular chromosome known as Chromosome 5

symptoms: cat like cry, microcephaly, intellectual disability

communication: Communication: Difficulty understanding and expressing language, articulation and fluency problems. Feeding: Muscle weakness, coordination problems, oralmotor delays. Social skills: Difficulty understanding and responding to social cues, interacting with others in a socially appropriate way.

Crouzon Syndrome

Caused by a mutation in one of several genes that are involved in skull development

hallmark characteristics: craniosynostosis (sutures of skull close too early), midface hypoplasia (midface underdeveloped), proptosis (bulging of eyes)

communication: conductive hearing loss, articulation disorder associated with HL, abnormalities of palatal oral cavity structures

Down Syndrome

Caused by an extra copy of chromosome 21

hallmark characteristics: flat nose bridge, slanted eyes, shortened neck

communication: delayed speech and language development, oral motor delays, hearing loss, cognitive delays

Fragile X syndrome

Caused by an expansion of CGG repeat sequences in the FMR1 gene

hallmark characteristics: long and narrow face, large ears, macrocephaly

communication: intellectual disability, learning disabilities, delayed speech and language development, ADHD

Hurler’s Syndrome

Caused by by a mutation in the IDUA gene, which leads to a buildup of sugar molecules in the body and damages many organs and tissues

hallmark characteristics: coarse facial features, intellectual disability, cloudy corneas

communication: Speech: Difficulty speaking due to hearing loss,intellectual disability, and thickened tongue and lips. Feeding: Difficulty feeding due to thickened tongue and lips,limited range of motion in the mouth, enlarged tongue, and narrowing ofthe airway. Cognitive:Intellectual disability ranging from mild to severe.

Landau Klefner Syndrome

The precise cause is unclear, but it's likely multifactorial. While there may be a genetic tendency, as it can occur in family clusters, no specific genetic mutation has been confirmed

hallmark characteristics: acquired aphasia, seizures, abnormal electroencephalogram

communication: Acquired Aphasia, Auditory Agnosia, Speech Regression, Pragmatic Language Difficulties, Reading and Writing Challenges

Marfan Syndrome

a mutation in a gene called FBN1 (a set of instructions for making a protein called fibrillin-1 - helps form threads in our body's support structures) When the FBN1 gene has a mistake, the fibrillin-1 protein doesn't work correctly

hallmark characteristics: restrictive lung disease, high arched palate, aortic aneurysm

communication: High arched palate leading to speech articulation difficulties. Restrictive lung disease limits lung expansion, causing breathlessness during speech.

Moebius Syndrome

The exact cause is unknown. It appears to occur randomly (sporadically) in most cases; however, some cases occur in families suggesting thatthere may be a genetic component.

hallmark characteristics: facial paralysis, eye abnormalities, swallowing difficulties

communication: Dysarthria, Phonological impairments, Dysphagia, Cognitive delays, Learning disabilities

Pierre Robin Syndrome

Caused by an autosomal recessive inheritance. Can also occur as part of a genetic syndrome, such as Stickler syndrome or velocardiofacial syndrome.

hallmark characteristics: micrgnathia (small lower jaw), glossoptosis (posterior displacement of the tongue), cleft palate

communication: Difficulty feeding and swallowing, Speech and language problems, Hearing problems

Prader Willi Syndrome

is suspected to be linked to autosomal dominantinheritance. Deletions in the region ofthe long arm of chromosome 15 (15q11-15q13) have been identified in some cases.

hallmark characteristics: hypotonia, hyperphagia, intellectual disability

communication: imprecise articulation, Oral-motor difficulties, Hypernasality, Flat intonation patterns, Slow speaking rate, Harsh or hoarse vocal quality, Abnormal vocal pitch, Expressive and receptive language delays, Intellectual disability

Russel Silver Syndrome

can be caused by various genetic mutations. The most common known genetic cause is a loss of function on the maternal chromosome 11.

hallmark characteristics: intrauterine growth restriction, distinctive facial features, body asymmetry

communication: Speech and Language: Delays in both speaking and understanding language. Cognition: Potential learning and developmental delays, even with normal intelligence. Feeding: Challenges during infancy due to poor appetite and feeding difficulties.

Tourette Syndrome

The exact cause remains unknown, butit's speculated to involve genetic abnormalities affecting the brain's metabolism of neurotransmitters, such as serotonin, dopamine, and norepinephrine.

hallmark characteristics: motor tics, vocal tics, chronicity

communication: Facial tics (e.g., eye blinking, grimacing), Motor tics (e.g., head jerking, body twisting), Vocal tics (e.g.,throat clearing, shouting), Echolalia, Coprolalia

Treacher Collins Syndrome

The syndrome is typically caused by autosomal dominant inheritance, but some cases result from spontaneous mutations. Mutations in the TCOF1, POLR1C, or POLR1D genes are primarily responsible for this condition.

hallmark characteristics: underdeveloped facial bones, malformations of the pinna, hearing problems

communication: Articulation Disorders, Hypernasality, Nasal Emission, Difficulty with Phonological Processing, Sucking and Swallowing Problems

Turner Syndrome

Caused by the absence or partial absence of one of the two X chromosomes typically present in females. Most cases involve a missing X chromosome, while others might have a deformed one.

hallmark characteristics: affects only females, ovarian abnormality, congenital swelling

communication: Sensorineural Hearing Loss Language Delays Articulation Disorders High Arched Palate Cleft Palate (less common) Visual-Spatial Difficulties Learning Disabilities Attention Difficultie

Usher Syndrome

Caused by: Autosomal recessive inheritance in most instances. X-linked inheritance in rare cases.

hallmark characteristics: hearing loss, night blindness, balance issues

communication: Sensorineural Hearing Loss, Language and Articulation Disorders, Hypernasality and Nasal Emission

Velocardiofacial Syndrome

An autosomal genetic disorder caused by a deletion in a small part of chromosome 22, known as 22q11.2.

hallmark characteristics: cleft palate, unique facial characteristics, learning and speech difficulties

communication: Hypernasal resonance due to velopharyngeal insufficiency. Articulation disorders. Language difficulties. Speech delay. Nasal emissions during speech. Compensatory articulation strategies, such as glottal stops or pharyngeal articulations. Decreased oral pressure in consonant productions.

Williams Syndrome

Caused by an abnormality on chromosome 7, specifically a deletion in the region 7q11.23.

hallmark characteristics: distinctive facial features, cardiovascular problems, cognitive and personality profile

communication: Expressive Language Difficulties, Receptive Language Issues, Speech Sound Disorders, Voice and Fluency Disorders, Social Communication Difficulties, Feeding/Swallowing Issues