الفهرس Only 14 pages are availabe for public view
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Abstract
Chromosomal aberrations whether numerical or structural can lead to many derangements. Such derangements could affect the development of language and cognition in many ways either centrally leading to brain anomalies or dysfunction, or peripherally affecting neuromuscular integrity e.g. muscles of articulation. Furthermore, sensory organs affection would lead to auditory or visual disabilities which can also contribute to delayed language development.
This study was carried out on 50 patients (30 males and 20 females) with different chromosomal abnormalities based on cytogenetic or molecular tests. Their age ranged from 3 to 15 years. All cases were recruited from outpatient clinic of the children with special needs department in the National Research Center (NRC)-Cairo throughout the year 2006. They were grouped according to their type of chromosomal aberration into group I (20 cases) including cases with autosomal aberrations, group II (16 cases) including sex chromosome abnormalities and group III (12 cases) including cases with microdeletion syndromes. All cases were subjected to the detailed protocol of language assessment which was structured and applied in the Phoniatric Unit, Ain Shams University. Forty five of them were statistically analyzed. The remaining 5 cases were represented as individualized case studies.
Our results showed that all cases had significant delay in cognitive and linguistic abilities except those with Turner syndrome who showed below average mentality. The delay in mental age was the highest in fragile X syndrome and Prader-Willi syndrome, followed by Williams syndrome, Down syndrome and Rubinstein Taybi syndrome. The delay in social age was the highest in fragile X syndrome followed by Williams syndrome, then PWS, then Down syndrome then Rubinstein Taybi syndrome and finally Turner syndrome with the least delay. The motor development was more delayed in Rubinstein Taybi syndrome, then Down syndrome and it was less delayed in Prader-Willi and Williams syndromes. Finally, motor development was good in fragile X syndrome and in Turner syndrome. The delay in language was the highest in fragile X syndrome followed by Down syndrome, then Rubinstein Taybi syndrome, then Williams syndrome, then Prader-Willi syndrome. Language delay was found in only one case of Turner syndrome who had mental retardation.
Concerning the language patterns in the studied syndromes, semantics and receptive language are areas of relative strength in DS and FXS while expressive language represents an area of significant delay, together, with prosody and pragmatics. On the other hand, expressive language shows relative strength in WS and PWS. Pragmatics, also, is an area of strength in WS while it was poor in PWS. Poor auditory short term memory has a role in delayed language development especially in DS and FXS. Speech intelligibility was affected in all studied syndromes except cases with TS and WS.
Regarding the individual case studies, 18p- syndrome showed delayed cognitive and linguistic abilities with relative strength in receptive language and pragmatics. The case with cri du chat syndrome showed severe delay in cognitive and linguistic abilities so a certain language pattern was not detected. The case with double non disjunction having DS and TS showed mild delay in cognitive abilities which was consistent with TS. However, the case showed features of both syndromes. The delay in receptive language paralleled that in expressive language with near normal semantic development which display similarities to TS. The case also had poor intelligibility and poor auditory memory span, thus, showing similarities to DS. The case with triple X syndrome also showed delayed cognitive and linguistic abilities with relative strength in semantics and expressive language. We also studied a female case with pericentric inversion of X chromosome with 46, XX inv (X)(p11.22; q13.2) karyotype. She showed mild delay in cognitive and linguistic abilities with relative strength in pragmatics, prosody and expressive language.