SLPOtherClinical linguistics & phonetics2023

Early diagnostic indicators of childhood apraxia of speech in young children with 7q11.23 duplication syndrome: preliminary findings.

Claudia I Abbiati, Shelley L Velleman, Megan S Overby and 2 others

PMID 35652603

WHAT IT FOUND

Toddlers with 7q11.23 duplication syndrome showed less mature babble, fewer vocalizations, and limited consonant and vocalization diversity than typical toddlers, more closely resembling children later diagnosed with apraxia.

These patterns may flag risk, but they did not confirm a diagnosis.

Key findings

01Toddlers with Dup7 produced fewer vocalizations and canonical babbles per minute than typically developing toddlers or toddlers later diagnosed with a non-CAS speech-sound disorder, but not fewer than toddlers later diagnosed with CAS.

02Dup7 toddlers had more limited consonant diversity and vocalization-structure diversity than typically developing toddlers; consonant place and manner diversity was also more limited than in the non-CAS speech-sound disorder group.

03For Dup7 toddlers, orally produced word types during play were related to caregiver-reported expressive vocabulary and to volubility, canonical babbling frequency, and consonant diversity.

STILL TO COME

How it was doneWhat they foundWhat it means for SLPs

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What it does not show

The Dup7 group was very small, so the study had limited power to detect differences and may miss real differences. The Dup7 children were sampled in one 30-minute laboratory play session, while comparison children were sampled from multiple shorter home videos, so recording length, setting, and communication partners differed. The researchers did not know which Dup7 toddlers later received a CAS diagnosis, so the study cannot show that these early speech patterns predicted CAS in this genetic group. Comparison-group data came from earlier studies, and parent-reported CDI vocabulary was not available for the comparison groups. Non-English consonants were excluded from analysis, and it is unknown whether the comparison groups produced such sounds. Initial transcription agreement was low, although consensus transcripts were reviewed and corrected.

Declared interests

The authors reported no conflict of interest. The supplied metadata lists non-U.S. government and NIH extramural research support, but the text does not identify a specific funder.

The easy way to misread this

Do not read these early speech patterns as a confirmed diagnosis of childhood apraxia of speech or as proof that Dup7 causes CAS. The study was small, and the children with Dup7 were not known to have later CAS diagnoses.

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