22q11.2 Deletion Syndrome is a syndrome of many names. Also known as Velocardiofacial Syndrome, Shprintzen syndrome as well as DiGeorge Syndrome, 22q11.2 Deletion Syndromeis is caused by a microdeletion on the long arm of chromosome 22 (at location marker q11.2). This syndrome follows an autosomal dominant inheritance pattern (a child only needs to get the abnormal gene from one parent in order to inherit the disease), however, only around 10% of cases are inherited; the majority of cases are due to a random mutation. Continue reading Spotlight on Syndromes: An SLPs Perspective on 22q Deletion Syndrome
Today’s guest post on genetic syndromes comes from Amy Locy, who is contributing an informative piece on the Treacher Collins Syndrome (TCS). TSC occurs in 1 out of every 50,000 live births with 40% of children born with TCS having a family member with the syndrome. TCS is distributed equally across genders and races. It can often occur in conjunction with the Pierre Robin Sequence.
There are many developmental anomalies associated with TCS that are restricted to the head and neck and vary from person to person. Continue reading Spotlight on Syndromes: an SLPs Perspective on Treacher Collins
Today I am excited to introduce to you the new series which will be featured on my blog and will be written by myself as well as numerous knowledgeable contributing authors. It is an SLP’s perspective on genetic syndromes.
Why syndromes you ask?
Because speech language pathologists in a variety of settings (e.g., schools, hospitals, private practice, etc.) often encounter children with diagnosed or suspected syndromes. Yet the knowledge regarding various syndromes and their effects on communication continues to remain very limited in our field. Continue reading Introducing a New Series for SLPs and Parents: Spotlight on Syndromes
“The importance of thorough pediatric orofacial assessments in speech pathology: It’s not just for speech sounds anymore” will be published in the online edition of Advance for Speech Language Pathologists and Audiologists on November 16, 2011.
Article Summary: This article explains the importance of documenting orofacial assessment findings for multidisciplinary referral and diagnosis purposes. It offers several personal clinical case examples of atypical orofacial findings, which let to subsequent medical diagnosis of neurological and genetic disorders. It also explains why in some select circumstances, SLP’s may be the first professionals to observe/record atypical findings.