Cases reported "Down Syndrome"

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1/14. comorbidity of autistic spectrum disorders in children with down syndrome.

    The aim of the study was to identify the comorbidity of autistic spectrum disorders in a population of children with down syndrome (DS). All children with DS within a defined population of South Birmingham were identified. The Asperger Syndrome Screening Questionnaire and the child Autism Rating Scale were completed and diagnosis made according to ICD-10 criteria following interview and observation. Thirty-three of 58 identified children completed the measures, four of whom received a diagnosis of an autistic spectrum disorder. This is equivalent to a minimum comorbid rate of 7%. The questionnaire items concerning social withdrawal, restricted or repetitive interests, clumsiness, and unusual eye contact were associated with an autistic disorder. Of the remaining 29 participating children, 11 also displayed marked obsessional and ritualistic behaviours. The comorbid occurrence of autism and DS is at least 7%. It is important that these children are identified and receive appropriate education and support. A full assessment of social, language, and communication skills and behaviour is crucial, particularly in children with DS who appear different from other children with DS. Potential mechanisms accounting for this comorbidity are discussed.
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2/14. prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.

    We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.
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3/14. The palliative care needs of people with intellectual disabilities: a case study.

    This article describes a case study that aimed to consider the unique needs of a client who has intellectual disabilities and a terminal illness. data collection included semi-structured interviews with the client and professionals involved in his care. Five broad sets of themes emerged from these interviews. Although these are not unique to the rapidly evolving field of palliative care, they are less familiar within the specialism of intellectual disabilities, i.e. difficulties and delays around diagnosing the illness, consent issues, conflicts between the carers and the family, truth-telling, and the need for professional support. Professionals who work with a person with intellectual disabilities and a terminal illness need to be aware that special issues may arise. The effects of potential problems with comprehension and communication need to be assessed individually. A close collaboration between all professionals, carers, family and the client, and the mutual sharing of expertise, is essential to ensure the best possible care.
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4/14. prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q) with pericentric inversion of chromosome 9.

    This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q) in a 36-year-old gravida 7, para 1 woman. The lady had only one living child and there was history of recurrent spontaneous first trimester abortions. Triple test was abnormal in the present conception. In addition, the woman had pericentric inversion of chromosome 9, a finding scarcely reported previously with carrier status in Indian literature. A few cytogeneticists consider this as a normal variant. However, many reports in the recent literature link pericentric inversion of chromosome 9 with infertility, recurrent abortions and a number of other abnormal conditions. A review of the relevant literature pertinent to the case is provided.
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5/14. Abnormalities of the umbilico-portal venous system in down syndrome: a report of two new patients.

    Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico-portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt. Both patients also had heart defects. As previously documented in other reports, our cases demonstrated that this association may be causally-related to the chromosomal aberration. In addition, the umbilico-portal venous system abnormalities seems to be the most frequent congenital vascular malformation in down syndrome. A presumptive pathogenetic mechanism could be a trisomy 21-related altered angiogenesis of the vitelloumbilical plexus.
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6/14. family-centered early intervention: an opportunity for creative practice in speech-language pathology.

    Services for developmentally delayed children from birth to age three consider the family first. Eligibility for services is determined through a multidisciplinary assessment. Once a child qualifies for service, a multidisciplinary team that includes the family develops an IFSP. The SLP may serve as the service coordinator for the plan or as a team member. The plans must contain specific information that includes documentation of current status and major outcomes for the coming year. An SLP may find that contributing effectively to an IFSP requires new competencies. First, the SLP will need to learn to function in the family-centered, multidisciplinary process of early intervention. Second, the SLP may need to develop creative models to deliver effective service. SLPs can contribute valuable information to the IFSP by finding ways to activate daily life routines to promote a child's communication skills. SLPs can explore the child's life-space, including routines and partners, as a source of contexts for treatment. SLPs also can explore partner communication strategies, note their effects on the child's communication experiences, and recommend additional strategies for treatment. The case study illustrated an individual, home-based intervention program (Gillette, 1989; Lombardino and Magnan, 1983). Other service delivery models can include classroom-based approaches (Wilcox, Kouri, and Caswell, 1991); group parent training approaches (Weistuch, Lewis, and Sullivan, 1991; Cheseldine and McConkey, 1979); and video-assisted approaches (McConkey, 1988; Johnson and Harrison, 1990; Gillette, in press). Many SLPs may find that the process of early intervention with the birth-to-three population offers unique opportunities for practice in their profession. To function effectively in this process, the SLP needs communication-based information to promote the child's communication skills within his or her daily life and sensitivity with which to design a plan that considers the family first, yet meets the needs of the child. Although alternative models of delivering speech-language service have been explored, the process of early intervention will continue to require professionals who can creatively match family priorities with the child's intervention needs.
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7/14. Portohepatic shunt in a down syndrome patient with an interchange trisomy 47,XY,-2, der(2), der(21)t(2;21)(p13;q22.1)mat.

    A rare vascular portohepatic anomaly was identified in a down syndrome patient with a 47,XY,-2, der(2), der(21)t(2;21)(p13;q22.1) mat chromosomal complement. This vascular defect involves a direct communication between the right portal vein and the inferior vena cava (IVC). We discuss the possibility that this vascular defect is a rare manifestation in down syndrome. Alternatively, the existence of these 2 rare events in the same patient raises the possibility that they are causally related.
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8/14. trisomy 21 and rett syndrome: a double burden.

    rett syndrome is a severe neurodevelopmental disorder generally affecting girls. Affected individuals are apparently normal at birth but later pass through a period of regression with loss of hand and communication skills and the development of hand stereotypies and dyspraxia. Mutations in the methyl-CpG binding protein 2 (MECP2) gene, have now been found to cause rett syndrome in up to 80% of classical cases. We report a girl with down syndrome, one of three children with birth defects in a family of five. From the age of 18 months she developed symptomatology considered by her primary physician to be very characteristic of rett syndrome. However, this remained a clinical diagnosis till the age of 12 years. Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in addition to trisomy 21, has now been possible. The presence of one neurological or developmental disorder does not necessarily preclude a diagnosis of rett syndrome.
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9/14. Stenosis of pulmonary veins in down syndrome.

    Two patients with down syndrome, intracardiac communications and elevated pulmonary arteriolar resistance presented early in life. Both patients had significant stenosis of pulmonary veins. The progressive nature of the stenosis is illustrated in one patient. Pulmonary venous stenosis in down syndrome has been recorded only twice before in the literature, and may play a part in the early onset of pulmonary vascular occlusive disease in some patients.
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10/14. Dramatic improvement in down syndrome-associated cognitive impairment with donepezil.

    OBJECTIVE: To report 2 cases of patients with down syndrome and severe cognitive impairment who gained dramatic improvements in quality of life (QOL) upon donepezil treatment. CASE SUMMARIES: Case 1. A 38-year-old woman with down syndrome, diagnosed with secondary progressive dementia when her mental state had deteriorated rapidly after graduation from junior high school, started donepezil treatment. The loading dose was 3 mg/day and was increased to 5 mg/day for maintenance. One month after the dose was increased, adverse effects such as soft stool and urinary incontinence appeared. These adverse effects disappeared when the dose was decreased again to 3 mg/day. Her QOL improved dramatically with this minimal dose. She recovered verbal and written communication skills that she had lost for the past 21 years. Case 2. A 22-year-old man with down syndrome, who had been diagnosed as having severe mental retardation, was put on donepezil therapy. Both loading and maintenance doses were 3 mg/day. His QOL had also dramatically improved, with some recovery in verbal communication. Transient agitation/violence and transient muscle weakness appeared during the first few months of treatment. DISCUSSION: patients with down syndrome may be more sensitive to donepezil therapy than others and may benefit from this medicine, although they may also have adverse effects more frequently. CONCLUSIONS: Donepezil may be a useful medicine for some patients with down syndrome with severe cognitive impairment or mental retardation if the adverse effects are manageable.
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