Part II: Clinical Practice Guidelines for adolescents and young adults with Down Syndrome: 12 to 21 Years.

Down Syndrome Center of Western Pennsylvania, Children's Hospital of Pittsburgh, 3705 Fifth Ave, Pittsburgh, PA 15213, USA.
Journal of Pediatric Health Care (Impact Factor: 1.97). 05/2006; 20(3):198-205. DOI: 10.1016/j.pedhc.2006.02.006
Source: PubMed
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    ABSTRACT: The main aim of this case series report is to alert physicians to the occurrence of catatonia in Down syndrome (DS). A second aim is to stimulate the study of regression in DS and of catatonia. A subset of individuals with DS is noted to experience unexplained regression in behavior, mood, activities of daily living, motor activities, and intellectual functioning during adolescence or young adulthood. Depression, early onset Alzheimer's, or just "the Down syndrome" are often blamed after general medical causes have been ruled out. Clinicians are generally unaware that catatonia, which can cause these symptoms, may occur in DS. Four DS adolescents who experienced regression are reported. Laboratory tests intended to rule out causes of motor and cognitive regression were within normal limits. Based on the presence of multiple motor disturbances (slowing and/or increased motor activity, grimacing, posturing), the individuals were diagnosed with unspecified catatonia and treated with anti-catatonic treatments (benzodiazepines and electroconvulsive therapy [ECT]). All four cases were treated with a benzodiazepine combined with ECT and recovered their baseline functioning. We suspect catatonia is a common cause of unexplained deterioration in adolescents and young adults with DS. Moreover, pediatricians and others who care for individuals with DS are generally unfamiliar with the catatonia diagnosis outside schizophrenia, resulting in misdiagnosis and years of morbidity. Alerting physicians to catatonia in DS is essential to prompt diagnosis, appropriate treatment, and identification of the frequency and course of this disorder.
    Neuropsychiatric Disease and Treatment 01/2015; 11:941. DOI:10.2147/NDT.S77307 · 2.15 Impact Factor
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    ABSTRACT: To investigate whether different types of ocular manifestations are associated with congenital heart disease (CHD) in a large Caucasian population of children and young adults with Down syndrome (DS). Population-based, case-control study which included 185 subjects with DS (mean age 13.2 ± 7.9 years), who reported presence or absence of CHD; DS with CHD group (51 subjects, mean age 10.6 ± 5.6 years) and DS without CHD (134 subjects, mean age 14.2 ± 8.4 years). In our sample with DS and CHD, strabismus was found in 15 subjects (29.4%), nystagmus in 1 (2.0%), epiblepharon in 21 (41.2%) and Brushfield spots in 15 (31.3%). In the DS without CHD group, strabismus was found in 38 participants (28.4%), nystagmus in 13 (9.7%), epiblepharon in 31 (23.5%) and Brushfield spots in 21 (16.0%). Only the variables epiblepharon and presence of Brushfield spots differed significantly between the two groups (p = 0.02 and p = 0.03, respectively). Hyperopia was present in 26 participants (53.1%) in the DS with CHD group, and in 65 (57.0%) in the DS without CHD group. Oblique astigmatism was present in 25 (52.1%) in the DS with CHD group and in 61 (53.5%) in the DS without CHD group. Frequencies of DS participants presenting with strabismus, nystagmus, hyperopia and oblique astigmatism were not statistically different between those with CHD and those without CHD in this sample. Further studies are needed to confirm if there are associations between the presence of Brushfield spots or epiblepharon and CHD in patients with DS.
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    ABSTRACT: Background The Ts1Cje mouse model of Down syndrome (DS) has partial triplication of mouse chromosome 16 (MMU16), which is partially homologous to human chromosome 21. These mice develop various neuropathological features identified in DS individuals. We analysed the effect of partial triplication of the MMU16 segment on global gene expression in the cerebral cortex, cerebellum and hippocampus of Ts1Cje mice at 4 time-points: postnatal day (P)1, P15, P30 and P84. Results Gene expression profiling identified a total of 317 differentially expressed genes (DEGs), selected from various spatiotemporal comparisons, between Ts1Cje and disomic mice. A total of 201 DEGs were identified from the cerebellum, 129 from the hippocampus and 40 from the cerebral cortex. Of these, only 18 DEGs were identified as common to all three brain regions and 15 were located in the triplicated segment. We validated 8 selected DEGs from the cerebral cortex (Brwd1, Donson, Erdr1, Ifnar1, Itgb8, Itsn1, Mrps6 and Tmem50b), 18 DEGs from the cerebellum (Atp5o, Brwd1, Donson, Dopey2, Erdr1, Hmgn1, Ifnar1, Ifnar2, Ifngr2, Itgb8, Itsn1, Mrps6, Paxbp1, Son, Stat1, Tbata, Tmem50b and Wrb) and 11 DEGs from the hippocampus (Atp5o, Brwd1, Cbr1, Donson, Erdr1, Itgb8, Itsn1, Morc3, Son, Tmem50b and Wrb). Functional clustering analysis of the 317 DEGs identified interferon-related signal transduction as the most significantly dysregulated pathway in Ts1Cje postnatal brain development. RT-qPCR and western blotting analysis showed both Ifnar1 and Stat1 were over-expressed in P84 Ts1Cje cerebral cortex and cerebellum as compared to wild type littermates. Conclusions These findings suggest over-expression of interferon receptor may lead to over-stimulation of Jak-Stat signaling pathway which may contribute to the neuropathology in Ts1Cje or DS brain. The role of interferon mediated activation or inhibition of signal transduction including Jak-Stat signaling pathway has been well characterized in various biological processes and disease models including DS but information pertaining to the role of this pathway in the development and function of the Ts1Cje or DS brain remains scarce and warrants further investigation. Electronic supplementary material The online version of this article (doi:10.1186/1471-2164-15-624) contains supplementary material, which is available to authorized users.
    BMC Genomics 07/2014; 15(1):624. DOI:10.1186/1471-2164-15-624 · 4.04 Impact Factor