The occurrence of congenital defects in children with Down’s Syndrome (DS) in outpatient rehabilitation

Ludwika Sadowska, Anna Gruna-Ożarowska, Monika Mysłek, Elżbieta Wójcik, Ewa Masłowska

Ludwika Sadowska, Anna Gruna-Ożarowska, Monika Mysłek, Elżbieta Wójcik, Ewa Masłowska – The occurrence of congenital defects in children with Down’s Syndrome (DS) in outpatient rehabilitation. Fizjoterapia Polska 2001; 1(3); 254-260

Abstract

Background. The authors have attempted to assess the frequency of occurrence of congenital organ defects and hypothyroidism in Down’s Syndrome (DS) children rehabilitated on an outpatient basis. Trisomy of the 21st chromosome pair can be a cause of many diverse somatic defects, which can be detected in comprehensive clinical diagnosis.Material and methods. A retrospective study was performed on the basis of existing medical documentation for 527 DS children ranging in age from 0-18, registered in the period 1993-2000. Results. Cetogenetic testing performed on 497 patients with the characteristic phenotype picture revealed simple trisomy of the 21st chromosome pair in 475 cases (95% of the total population), Robertson translocation in 20 cases (4.2%), and a mosaic arrangement in 4 cases (0.8%). The occurrence of congenital heart defects in DS children was noted in 254 cases (48.2% of the total), vision defects in 238 (45%), hearing defects in 54 (10%), bone and joint defects – in the form of developmental anomalies of the spine, rib cage, upper limbs, and lower limbs – in 113 (21.4%). Other defects occurred less often: urogenital defects in 40 cases (7.6%), digestive tract defects in 29 cases (5.5%) and respiratory defects in 23 cases (4.4%). Congenital hypothyroidism confirmed by testing the level of TSH was found in 112 children (21.3%). Conclusions. The diversity of disturbances seen in DS children requires early, comprehensive diagnosis and developmental rehabilitation, a conductive family environment, and broad social support.

Key words:
congenital organ defects, Trisomy, cytogenetic testing
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Somatic development of children with Down Syndrome (DS) who were treated in ambulatory system

Ludwika Sadowska, Monika Mysłek, Agata Gruna-Ożarowska

Ludwika Sadowska, Monika Mysłek, Agata Gruna-Ożarowska – Somatic development of children with Down Syndrome (DS) who were treated in ambulatory system. Fizjoterapia Polska 2002; 2(1); 21-28

Abstract
The authors conducted the evaluation of somatic development in children with DS who were rehabilitated in ambulatory system. Trisomy of 21 pair chromosomes’ causes inharmonious psychosomatic development with could be noticed in complex clinical diagnostic. Retrospective diagnostic was conducted on account of medical documentation of 549 children with DS in the age of 0-18 with were registered in the years of 1995-2001. The disorders of physical development which increases with the age are genetic determinated. This fact was noted account antropometric measures. The young children have a big deficiency of body mass and height and also a small cranial and chest circumferences. But the older ones in second decade of live have obesity and nanosomia. The enormous physical development are strictly connected with enormous physical one, congenital defects, insufficiency of thyroid gland and often infections.

Key words:
Down Syndrome, Somatic development

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The efficacy of early neurostimulation of development in the Wroclaw Model of Rehabilitation for Down’s syndrome children, as measured by bio-electric examinations of the brain

Witold Pilecki, Ludwika Sadowska, Monika Mysłek, Zbigniew Śliwiński

Witold Pilecki, Ludwika Sadowska, Monika Mysłek, Zbigniew Śliwiński – The efficacy of early neurostimulation of development in the Wroclaw Model of Rehabilitation for Down’s syndrome children, as measured by bio-electric examinations of the brain. Fizjoterapia Polska 2002; 2(2); 99-107

Abstract
Material and methods. Brainstem auditory evoked potentials (BAEP) and visual evoked potentials (VEP) were examined in two groups of small children with Down syndrome (DZ), one group rehabilitated since birth in the Wrocław Model of Rehabilitation (WMU), and the other not rehabilitated. The findings were compared with an homologous control group of healthy children. Results. During the BAEP examinations, the latency of deflection I was analyzed, where delayed latency indicates reduced sensitivity to sound. The examinations showed a significantly higher percentage of poor results in the group of DS. children who were not rehabilitated (33.3% in the first examination and 27.3% during the control examination). In the group of children with DS rehabilitated since birth, the percentage was 5 times lower (5.4% at the beginning of rehabilitation and 3.8% after several months of rehabilitation), similar to the results achieved in the control group (3.3%). In the VEP examinations, the percentage of normal results after stimulation with a flash of light was low in the group of children not rehabilitated (34% on the first examination). In the group of rehabilitated children, 53% achieved completely normal results. In the control examination, in the group of children not rehabilitated, normalization was observed in only one case (of 5 examined children), whereas in the rehabilitated group normalization occurred in 6 out of 13 cases with previously abnormal results. Ultimately, normal results were achieved by 38% of the children not rehabilitated and 68% of the rehabilitated children. In the control group, 84% of the results were normal. Conclusion. In the case of children with Down’s Syndrome, the activity of the examined analyzers differs from healthy children. On the other hand, the improvement observed over time indicates that some normalization of function does occur in these analyzers, particularly in children subjected to neurostimulation since the first months of life.

Key words:
Down, brain evoked potentials, Wroclaw Model of Rehabilitation

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