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Comprehensive Assessment of Monolingual and Bilingual Children with Down Syndrome

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Assessing speech-language abilities of children with genetic disorders and developmental disabilities is no easy feat. Although developmental and genetic disorders affecting cognition, communication and functioning are increasingly widespread, speech-language assessment procedures for select populations (e.g., Down Syndrome) remain poorly understood by many speech-language professionals, resulting in ineffective or inappropriate service provision. (more…)

Spotlight on Syndromes: An SLPs Perspective on Fragile X Syndrome

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Today’s guest post on Fragile X Syndrome comes from Happily SLP, Carly Fowler.  Fragile X is an inherited disorder that is associated with mental retardation and developmental disorder. This is a sex-linked disorder.  Fragile X is linked to the 23rd chromosomal pair; specifically the X chromosome. Physical characteristics of fragile X syndrome (FXS) in males are […]

Spotlight on Syndromes: An SLPs Perspective on Apert Syndrome

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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 […]

Spotlight on Syndromes: An SPLs Perspective on Monosomy 13q Syndrome

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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 […]

Spotlight on Syndromes: An SLPs and OTs Perspective on Williams Syndrome

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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 […]

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Spotlight on Syndromes: An SLPs Perspective on CHARGE Syndrome

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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 […]

Spotlight on Syndromes: An SLPs Perspective on Hurler Syndrome

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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. (more…)

Spotlight on Syndromes: An SLPs Perspective on Spinal Muscle Atrophy

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The following is an informational post on the disease SMA (spinal muscle atrophy) by Rose Ann Kesting M.A. CCC-SLP. After reading, please visit her blog post “My Wednesday Morning Wake Up Call,” for a personal account of her experience with a very special boy with Type 1 SMA and his amazingly dedicated family. (more…)

Spotlight on Syndromes: An SLPs Perspective on Menkes Syndrome

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November is Menkes Awareness month, so today Olga Z. Porterfield will be contributing a post on the Menkes Syndrome. Menkes Syndrome (MNK), also known as Menkes disease, copper transport disease, steely hair disease, kinky hair disease, or Menkes kinky hair syndrome, is a disorder originally described by John Hans Menkes (1928–2008), which affects copper levels in […]

Spotlight on Syndromes: An SLPs Perspective on Down Syndrome

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Today’s guest post on genetic syndromes comes from Rachel Nortz, who is contributing a post on the Down Syndrome. Down Syndrome is a genetic disorder that is characterized by all or part of a third copy of the 21st chromosome. There are three different forms of Down syndrome: trisomy 21, translocation, and mosaicism. Trisomy 21 is the […]

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