Category: genetic syndromes

Today’s guest post on genetic syndromes comes from Rebecca Freeh Thornburg, who is contributing information on the Apert Syndrome. Rebecca is a repeated guest blog contributor. Her informative guest post on the CHARGE Syndrome can be found HERE.

Overview

Apert Syndrome is a genetic condition resulting from a mutation in gene FGRF2 – fibroblast growth factor receptor 2 – on chromosome 10. Incidence estimates vary from 1 in 65,000 to 1 in 120,000 births.  Most cases of Apert syndrome result from a new mutation, rather than being genetically inherited from a parent.  Children born with Apert Syndrome are affected by characteristic craniofacial differences caused by premature fusion of the bones of the skull, as well and limb anomalies, especially fusion of skin of the fingers and/or toes.  Multiple craniofacial and limb procedures, as well as other surgical interventions are often necessary to minimize the medical complications and cosmetic impact of the disorder. Continue reading Spotlight on Syndromes: An SLPs Perspective on Apert Syndrome

Today’s guest post on Monosomy 13q Syndrome is brought to you by the ever talented Maria Del Duca, M.S. CCC-SLP of Communication Station: Speech Therapy, PLLC, located in southern Arizona. 

Overview: Also known as “13q Deletion Syndrome”, this is a chromosomal disorder that results in intellectual disabilities as well as congenital malformations of the skeleton, heart, brain and eyes. The causes of this syndrome can be hereditary or non-hereditary.  When the long arm of chromosome 13 (labeled “q”) is missing/deleted or when both parts of chromosome 13 have been lost/deleted and have reconnected to form a ring (called “ring chromosome 13”), and the genetic mutation occurs before conception, during formation of the egg and sperm (gametes), this results in “monosomy 13q” (non-hereditary genetic mutation).  However, there are times the cause is due to a parent carrier who passed down an inverted or translocated chromosome to the child subsequently resulting in a hereditary etiology.  Risk of 13q Deletion Syndrome to occur in subsequent pregnancies is very low.  If mother is the carrier, the risk is 10-15% and if the father is the carrier the risk is 2-4%. Continue reading Spotlight on Syndromes: An SPLs Perspective on Monosomy 13q Syndrome

Today’s guest post on Williams Syndrome comes from Pamela Mandell, M.S. CCC-SLP with a contribution from Priya Deonarain, MA, OTR/L, CKTP.

Overview

Williams syndrome (WS), also known as Williams-Beuren Syndrome, is a rare genetic disorder caused by the deletion of the long arm of chromosome 7 or, more specifically a microdeletion at 7q11.23, which involves the elastin gene. WS occurs in approximately 1 in 10,000 births worldwide. It is characterized by cardiovascular disease, dysmorphic craniofacial features, a characteristic cognitive and personality profile, deficient visuospatial abilities, hyperacusis, growth retardation, developmental delays, feeding difficulties, and learning disabilities. However, many people with WS exhibit strong expressive language skills and an affinity for music. Mild to severe anxieties as well as Attention Deficit Hyperactivity Disorder (ADHD) are also associated with WS. The degree of severity or involvement of these characteristics is variable and no two individuals with WS are alike. WS affects both males and females equally. Sadler, et al. (2001), determined the severity of both supravalvular aortic stenosis (SVAS) and total cardiovascular disease was significantly higher in males than females. There is no cure for WS. Patients must be continually monitored and treated for symptoms throughout their lives. Continue reading Spotlight on Syndromes: An SLPs and OTs Perspective on Williams Syndrome

Today’s guest post on genetic syndromes comes from Rebecca Freeh Thornburg, who is contributing on CHARGE Syndrome.

Overview:

CHARGE Syndrome is an extremely complex genetic condition encompassing anomalies of multiple systems. CHARGE affects approximately 1 in every 9 to 10,000 live births, worldwide. Respiratory issues and complex cardiac defects often require early and frequent hospitalization and surgical intervention. Characteristic hearing and vision impairments also contribute to delays in development.  Early and ongoing intervention by speech-language pathologists and other members of a multi-disciplinary care team is critical in achieving best outcomes for children affected by CHARGE. Continue reading Spotlight on Syndromes: An SLPs Perspective on CHARGE Syndrome

Today’s guest post on genetic syndromes comes from Kelly Hungaski, who is contributing an informative piece on the Hurler Syndrome.

Hurler Syndrome is a rare, inherited metabolic disease in which a person can’t break down lengthy chains of sugar molecules called glycosaminoglycans. Hurler syndrome belongs to a group of diseases called mucopolysaccharidoses, or MPS. Continue reading Spotlight on Syndromes: An SLPs Perspective on Hurler Syndrome