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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Cossins, E., Lee, R

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Other Signs of Childhood Apraxia of Speech (CAS) These other symptoms have often been noted in children with CAS but dont HAVE to be present for the diagnosis to be made: Reduced vowel inventory Vowel errors Increased errors in longer or more complex syllable and word shapes (especially omissions, particularly in word-initial position) Groping Unusual errors that defy process analysis Persistent or frequent regression (e.g., loss of words or sounds that were previously mastered) Differences in performance of automatic (overlearned) versus volitional (spontaneous or elicited) activities, with volitional activities more affected Errors in the ordering of sounds (migration and metathesis), syllables, morphemes, or even words Childhood Apraxia of Speech Goals: Although therapy for each child will be individual to that childs particular needs, we must consider and include these 4 components in their treatment (along with any other problems the child may be having): Speech Sound Production Language Development Augmentative-Alternative Communication (AAC) if necessary Prosody Childhood Apraxia of Speech Goal 1: Speech Sound Production Speech Sound Production This is the first component of therapy for children with CAS and often the first one that we think of