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Speech production accuracy in children with Down syndrome: relationships with hearing, language, and reading ability and change in speech production accuracy over time
K. Burgoyne,S. Buckley,R. Baxter
doi : 10.1111/jir.12890
Volume 65, Issue 12 p. 1021-1032
This study examines speech production accuracy in children with Down syndrome and concurrent relationships with hearing, language and reading ability. It also examines change in speech production accuracy over a 21-month period.
Diagnostic yield of microarrays in individuals with non-syndromic developmental delay and intellectual disability
S. O?uz,U. E. Arslan,P. Ö. ?. Kiper,M. Alika?ifo?lu,K. Boduro?lu,G. E. Utine
doi : 10.1111/jir.12892
Volume 65, Issue 12 p. 1033-1048
Intellectual disability (ID), or developmental delay (DD) when the individual is yet under 5 years of age, is evident before 18 years of age and is characterised by significant limitations in both intellectual functioning and adaptive behaviour. ID/DD may be clinically classified as syndromic or non-syndromic. Genomic copy number variations (CNVs) constitute a well-established aetiological subgroup of ID/DD. Overall diagnostic yield of microarrays is estimated at 10–25% for ID/DD, especially higher when particular clinical features that render the condition syndromic accompany.
Two novel pathogenic variants in MED13L: one familial and one isolated case
L. M. L. Carvalho,S. S. da Costa,F. Campagnari,A. Kaufman,D. R. Bertola,I. T. da Silva,A. C. V. Krepischi,C. P. Koiffmann,C. Rosenberg
doi : 10.1111/jir.12891
Volume 65, Issue 12 p. 1049-1057
Genetic variants involving the MED13L gene can lead to an autosomal dominant syndrome characterised by intellectual disability/developmental delay and facial dysmorphism.
Training responsiveness of cardiorespiratory fitness and arterial stiffness following moderate-intensity continuous training and high-intensity interval training in adults with intellectual and developmental disabilities
X. Melo,R. Pinto,V. Angarten,M. Coimbra,D. Correia,M. Roque,J. Reis,V. Santos,B. Fernhall,H. Santa-Clara
doi : 10.1111/jir.12894
Volume 65, Issue 12 p. 1058-1072
Cardiorespiratory fitness (CRF) prompts antiatherogenic adaptations in vascular function and structure. However, there is an extraordinary interindividual variability in response to a standard dose of exercise, wherein a substantial number of adults with intellectual and developmental disabilities (IDD) do not improve CRF. We (1) evaluated the effects of 12-month of moderate-intensity continuous training (MICT) on CRF and arterial stiffness and (2) tested whether an additional 3-month of high-intensity interval training (HIIT) would add to improvements in CRF responsiveness and arterial stiffness.
Association of BDNF levels with IQ: comparison of S100B and BDNF levels in typically developing children and subjects with neurologically normal nonsyndromic intellectual disability
E. Esnafoglu,Ö. Ad?güzel
doi : 10.1111/jir.12896
Volume 65, Issue 12 p. 1073-1084
Brain-derived neurotrophic factor (BDNF) and S100B are reported to play an important role in neurodevelopment and may contribute to developmental pathogenesis in neuropsychiatric diseases. In this study, we aimed to examine the possible roles of BDNF and S100B in the pathogenesis of nonsyndromic intellectual disability (NS-ID) and their relationship with cognitive performance.
Identifying dementia in Down syndrome with the Severe Impairment Battery, Brief Praxis Test and Dementia Scale for People with Learning Disabilities
E. R. Wallace,J. P. Harp,K. L. Van Pelt,L. M. Koehl,A. M. Caban-Holt,A. J. Anderson-Mooney,G. A. Jicha,D. D. Lightner,W. C. Robertson,E. Head,F. A. Schmitt
doi : 10.1111/jir.12901
Volume 65, Issue 12 p. 1085-1096
Individuals with Down syndrome (DS) are at high risk for dementia, specifically Alzheimer's disease. However, many measures regularly used for the detection of dementia in the general population are not suitable for individuals with DS due in part to floor effects. Some measures, including the Severe Impairment Battery (SIB), Brief Praxis Test (BPT) and Dementia Scale for People with Learning Disabilities (DLD), have been used in clinical trials and other research with this population. Validity research is limited, particularly regarding the use of such tools for detection of prodromal dementia in the DS population. The current project presents baseline cross-sectional SIB, BPT and DLD performance in order to characterise their predictive utility in discriminating normal cognition, possible dementia and probable dementia in adult DS.
Overweight/obesity and chronic health conditions in older people with intellectual disability in Ireland
J. Ryan,P. McCallion,M. McCarron,R. Luus,E. A. Burke
doi : 10.1111/jir.12900
Volume 65, Issue 12 p. 1097-1109
This study examines overweight/obesity and chronic health conditions (CHCs) in older people with intellectual disability (ID).
Of the necessary interplay of therapy and pedagogy in psychiatric hospitals for children with intellectual disability
K. Kuhn,K. Albertowski
doi : 10.1111/jir.12899
Volume 65, Issue 12 p. 1110-1110
Mentally ill children with intellectual disabilities do not always receive the services they need for effective change at psychiatric hospitals, as their verbal limitations render standard procedures in diagnostics and therapy difficult or impossible, as their ability to transfer insights acquired in one setting to another is impaired and as their families and caretakers are often overwhelmed by their needs. This is why an integral vision for children with intellectual disabilities is presented. Drawing on three case reports, it is highlighted how an interdisciplinary approach, a changed hospital set-up and constant interplay between therapy and pedagogy, between services to the child and to its caregivers can help overcome these difficulties.
