Williams syndrome (WS) is a rare genetic disorder characterized by heart disease, failure to thrive, hearing loss, intellectual or learning disability, speech and language delay, gregariousness, and non-social anxiety. The WS psycholinguistic profile is complex, including relative strengths in concrete vocabulary, phonological processing, and verbal short-term memory and relative weaknesses in relational/conceptual language, reading comprehension, and pragmatics. Many children evidence difficulties with finiteness marking and complex grammatical constructions. Speech-language intervention, support, and advocacy are crucial.
7q11.23 duplication syndrome is a recently-documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Developmentally appropriate nonverbal pragmatic abilities are demonstrated in socially comfortable situations. Motor speech disorder (Childhood Apraxia of Speech and/or dysarthria), oral apraxia, and/or phonological disorder or symptoms of these disorders are common as are characteristics consistent with expressive language disorder. Intensive speech/language therapy is critical for maximizing long-term outcomes.
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