An unusual profile
Sue Buckley
The role of Trisomy 21 in causing specific speech and language development is discussed by Paoloni-Giacobino and colleagues in a recent report of the development of a 14 year old girl with mosaic Down syndrome.
Buckley SJ. An unusual profile. Down Syndrome Research and Practice. 2007;12(1);8-8.
doi:10.3104/research-highlights.2039
The
role of Trisomy 21 in causing specific speech and language development is discussed
by Paoloni-Giacobino and colleagues in a recent report of
the development of a 14 year old girl with mosaic Down syndrome.
Trisomic cells are reported as being from 0.7% – 12% in different cell lines. This
young girl is reported to have moderately delayed articulation and phonology and
reduced fluency in her speech (affecting speech clarity and intelligibility). She
also has significant delays in grammar but no impairment in her pragmatic (use of
language) skills or auditory memory skills. She has an IQ score of 95 indicating
that she has age-appropriate general mental abilities.
Her only difficulties are in the speech and language domain, leading the authors
to suggest a direct dosage effect of a gene or genes on chromosome 21 on speech
and language skills – not one that is mediated by general cognitive impairments.
Sue Buckley is at
Down Syndrome Education International,
Portsmouth, Hampshire, UK.
Original research paper
- Paoloni-Giacobino A, Lemieux N, Lemyre E, Lespinasse J. Specific
language impairment as the prominent feature in a patient with a low-level trisomy
21 mosaicism. Journal of Intellectual Disability Research. 2007;51(5):401-405.
doi:10.1111/j.1365-2788.2006.00912.x