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Intellectual disability

Luca Lovrečić, Polona Rajar, Marija Volk, Sara Bertok, Barbara Gnidovec Stražišar, Damjan Osredkar, Maja Jekovec Vrhovšek, Borut Peterlin
Autism spectrum disorder (ASD) is a group of the neurodevelopment disorders presenting as an isolated ASD or more complex forms, where a broader clinical phenotype comprised of developmental delay and intellectual disability is present. Both the isolated and complex forms have a significant causal genetic component and submicroscopic genomic copy number variations (CNV) are the most common identifiable genetic factor in these patients. The data on microarray testing in ASD cohorts are still accumulating and novel loci are often identified; therefore, we aimed to evaluate the diagnostic efficacy of the method and the relevance of implementing it into routine genetic testing in ASD patients...
March 21, 2018: Journal of Applied Genetics
Patrícia Couto, Paulo Almeida Pereira, Manuel Nunes, Rui Amaral Mendes
Individuals with disabilities are regarded as a highly vulnerable population group, particularly as far as oral health is concern. However, few studies have assessed the impact of the oral condition on the quality of life of these individuals. Therefore, the aim of this study is to expand knowledge on the oral health status of the Portuguese adults with mild intellectual disability, and to assess how the patient's oral health is related to their quality of life. A sample of 240 adults with mild intellectual disabilities linked to the Portuguese Federation for Intellectual Disability, were interviewed using a previously validated version of the Oral Health Impact Profile...
2018: PloS One
Tenpei Akita, Kazushi Aoto, Mitsuhiro Kato, Masaaki Shiina, Hiroki Mutoh, Mitsuko Nakashima, Ichiro Kuki, Shin Okazaki, Shinichi Magara, Takashi Shiihara, Kenji Yokochi, Kaori Aiba, Jun Tohyama, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Atsuo Fukuda, Naomichi Matsumoto, Hirotomo Saitsu
Objective: α ( CAMK2A ) and β ( CAMK2B ) isoforms of Calcium/calmodulin-dependent protein kinase II (CaMKII) play a pivotal role in neuronal plasticity and in learning and memory processes in the brain. Here, we explore the possible involvement of α - and β -CaMKII variants in neurodevelopmental disorders. Methods: Whole-exome sequencing was performed for 976 individuals with intellectual disability, developmental delay, and epilepsy. The effect of CAMK2A and CAMK2B variants on CaMKII structure and firing of neurons was evaluated by computational structural analysis, immunoblotting, and electrophysiological analysis...
March 2018: Annals of Clinical and Translational Neurology
Nina McTiernan, Svein Isungset Støve, Ingvild Aukrust, Marita Torrisen Mårli, Line M Myklebust, Gunnar Houge, Thomas Arnesen
BACKGROUND: The NAA10-NAA15 (NatA) protein complex is an N-terminal acetyltransferase responsible for acetylating ~ 40% of eukaryotic proteins. In recent years, NAA10 variants have been found in patients with an X-linked developmental disorder called Ogden syndrome in its most severe form and, in other familial or de novo cases, with variable degrees of syndromic intellectual disability (ID) affecting both sexes. CASE PRESENTATION: Here we report and functionally characterize a novel and de novo NAA10 (NM_003491...
March 20, 2018: BMC Medical Genetics
Na He, Bing-Mei Li, Zhao-Xia Li, Jie Wang, Xiao-Rong Liu, Heng Meng, Bin Tang, Wen-Jun Bian, Yi-Wu Shi, Wei-Ping Liao
BACKGROUND: Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15-35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS) are two typical forms of intractable epileptic encephalopathy associated with ID. We previously reported that ASD was diagnosed in 24.3% of patients with DS, higher in those with profound ID. Given the severe epilepsy and high frequency of ID in LGS, it is necessary to know whether ASD is a common psychomotor co-morbidity of LGS...
March 20, 2018: Journal of Neurodevelopmental Disorders
Klaus Schepker, Thomas Beddies
Hans Heinze and the Research Programme of the German Association of Child Psychiatry and Therapeutic Education 1942-1945 Upon its foundation in 1940, Paul Schröder, full professor for psychiatry in Leipzig, was the first president of the German Society for Child Psychiatry and Therapeutic Education (DGKH). Following his death in 1941, his student Hans Heinze (Brandenburg/H.) succeeded him, prevailing over Werner Villinger (Breslau). The principal task of the DGKH was considered to be the exploration of the genetic origins of intellectual disabilities and behavioural disorders among children and adolescents...
September 2017: Praxis der Kinderpsychologie und Kinderpsychiatrie
Frank Häßler, Steffen Weirich
A Multi-arm Placebo-controlled Study with Glutamic Acid Conducted in Rostock in 1953/1954 Glutamic acid was commonly used in the treatment of intellectually disabled children in the 50s. Koch reported first results of an observation of 140 children treated with glutamic acid in 1952. In this line is the multi-arm placebo-controlled study reported here. The original study protocols were available. 58 children with speech problems who attending a school of special needs received glutamic acid, or vitamin B, or St...
September 2017: Praxis der Kinderpsychologie und Kinderpsychiatrie
Magalie S Leduc, Marianne Mcguire, Suneeta Madan-Khetarpal, Damara Ortiz, Susan Hayflick, Kory Keller, Christine M Eng, Yaping Yang, Weimin Bi
PRR12 encodes a proline-rich protein nuclear factor suspected to be involved in neural development. Its nuclear expression in fetal brains and in the vision system supports its role in brain and eye development more specifically. However, its function and potential role in human disease has not been determined. Recently, a de novo t(10;19) (q22.3;q13.33) translocation disrupting the PRR12 gene was detected in a girl with intellectual disability and neuropsychiatric alterations. Here we report on three unrelated patients with heterozygous de novo apparent loss-of-function mutations in PRR12 detected by clinical whole exome sequencing: c...
March 19, 2018: Human Genetics
Dennis H Reid, Mary Rosswurm, David A Rotholz
In this article, the authors offer recommendations for behavior analysts on how to treat adults with intellectual and developmental disabilities (IDD) with dignity. Initially, the importance of treating adults with disabilities with dignity is emphasized in terms of the impact on people with IDD, their family members, behavior analysts and other service providers, and the behavior analysis field in general. The recommendations are based primarily on the authors' professional and personal experiences along with similar experiences of others involved either personally or professionally in the disability field...
March 2018: Behavior Analysis in Practice
Richard Price, Abbie J Marsh, Marisa H Fisher
Facilitating the use of public transportation enhances opportunities for independent living and competitive, community-based employment for individuals with intellectual and developmental disabilities (IDD). Four young adults with IDD were taught through total-task chaining to use the Google Maps application, a self-prompting, visual navigation system, to take the bus to locations around a college campus and the community. Three of four participants learned to use Google Maps to independently navigate public transportation...
March 2018: Behavior Analysis in Practice
Mikimasa Omori, Jun-Ichi Yamamoto
Children with intellectual disabilities (ID) often have difficulty in sentence reading and comprehension. Previous studies have shown that training in segment-unit reading (SUR) facilitates the acquisition of sentence reading comprehension skills for Japanese students with ID. However, it remains unknown whether SUR training is also effective for individuals unable to read sentences and can generalize to untrained sentences. In this study, we examined the improvement and generalization of sentence reading accuracy and comprehension for two children with ID through SUR training with listening comprehensible sentences...
March 2018: Behavior Analysis in Practice
Sato Suzuki-Muromoto, Keisuke Wakusawa, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Atsuko Kato, Hiroshi Oba, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
Here we report a Japanese patient with new compound heterozygous truncating variants in the PCDH12 gene. As compared to the previously reported families who had congenital microcephaly, intrauterine growth retardation, intracranial calcification, and neonatal seizure associated with dysplasia of the midbrain-hypothalamus-optic tract, the present patient showed no midbrain-hypothalamus dysplasia or congenital/postnatal microcephaly, but dyskinetic cerebral palsy and severe intellectual disability as well as multifocal epilepsy...
March 19, 2018: Journal of Human Genetics
Aparna Prasad, Matthew A Sdano, Rena J Vanzo, Patricia A Mowery-Rushton, Moises A Serrano, Charles H Hensel, E Robert Wassman
BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA...
March 20, 2018: BMC Medical Genetics
Carolina de Medeiros Rimkus, Isabella Maria Bello Avolio, Eliane Correa Miotto, Samira Apostolos Pereira, Maria Fernanda Mendes, Dagoberto Callegaro, Claudia da Costa Leite
BACKGROUND: Low-education attainment is associated with worse cognitive performance in multiple sclerosis (MS) patients, and possibly with a lower cognitive reserve and/or increased inflammatory activity. Cognitive reserve refers to the capability of a source of intellectual enrichment in attenuating a negative effect of a disease-related factor; while the inflammatory activity is often related to T2-lesion load (T2-LL) increase. OBJECTIVE: To disentangle the effects of cognitive reserve and an increased T2-LL in MS-patients with low-education levels...
March 6, 2018: Multiple Sclerosis and related Disorders
Giovanni Iacono, Aline Dubos, Hamid Méziane, Marco Benevento, Ehsan Habibi, Amit Mandoli, Fabrice Riet, Mohammed Selloum, Robert Feil, Huiqing Zhou, Tjitske Kleefstra, Nael Nadif Kasri, Hans van Bokhoven, Yann Herault, Hendrik G Stunnenberg
Kleefstra syndrome, a disease with intellectual disability, autism spectrum disorders and other developmental defects is caused in humans by haploinsufficiency of EHMT1. Although EHMT1 and its paralog EHMT2 were shown to be histone methyltransferases responsible for deposition of the di-methylated H3K9 (H3K9me2), the exact nature of epigenetic dysfunctions in Kleefstra syndrome remains unknown. Here, we found that the epigenome of Ehmt1+/- adult mouse brain displays a marked increase of H3K9me2/3 which correlates with impaired expression of protocadherins, master regulators of neuronal diversity...
March 15, 2018: Nucleic Acids Research
Amanda C Martyn, Krisztian Toth, Robert Schmalzigaug, Nathan G Hedrick, Ramona M Rodriguiz, Ryohei Yasuda, William C Wetsel, Richard T Premont
The signaling scaffold protein GIT1 is expressed widely throughout the brain, but its function in vivo remains elusive. Mice lacking GIT1 have been proposed as a model for attention deficit-hyperactivity disorder, due to alterations in basal locomotor activity as well as paradoxical locomotor suppression by the psychostimulant amphetamine. Since we had previously shown that GIT1-knockout mice have normal locomotor activity, here we examined GIT1-deficient mice for ADHD-like behavior in more detail, and find neither hyperactivity nor amphetamine-induced locomotor suppression...
2018: PloS One
Hannah Crawford, Heather Wilkinson
Life grids have been used in qualitative studies for the last two decades. They provide an activity which researcher and participant can focus their attention on, help build rapport, and reduce the control the researcher may hold within a session. Here we describe the novel use of life grids at the end of a data collection phase. Used in this previously unreported way, life grids assisted the closure of the data collection phase by summarizing the data collection and marking departure from the field. Creation of a life grid produced a tangible outcome, evidencing the work undertaken within the data collection period...
March 1, 2018: Qualitative Health Research
Gareth E Ross, Kerensa Hocken, Jonathan M Auty
Adaptive functioning (AF) has been overlooked in the assessment of intellectual disability within the UK Prison Service, primarily because there are no reliable and valid measures of AF suitable for use with prison populations. This position is incompatible with the obligation of Her Majesty's Prison and Probation Service to provide specialist interventions for individuals with intellectual disabilities. This study assessed the psychometric properties of the Adaptive Functioning Assessment Tool (AFAT), a new measure of AF developed for use in prisons...
January 1, 2018: Journal of Intellectual Disabilities: JOID
Marta Zamarbide, Adam W Oaks, Heather L Pond, Julia S Adelman, M Chiara Manzini
Hundreds of genes are mutated in non-syndromic intellectual disability (ID) and autism spectrum disorder (ASD), with each gene often involved in only a handful of cases. Such heterogeneity can be daunting, but rare recessive loss of function (LOF) mutations can be a good starting point to provide insight into the mechanisms of neurodevelopmental disease. Biallelic LOF mutations in the signaling scaffold CC2D1A cause a rare form of autosomal recessive ID, sometimes associated with ASD and seizures. In parallel, we recently reported that Cc2d1a -deficient mice present with cognitive and social deficits, hyperactivity and anxiety...
2018: Frontiers in Genetics
A Minguez, M Milh
The objective of this study was to investigate the adaptive functioning of adults who had a slight to moderate intellectual deficiency, in regard of age and intellectual quotient (IQ). Cognitive and adaptive functioning were evaluated using the WAIS and VINELAND scales in 16 adults who accepted to participate in this study. We found a correlation between global IQ and each domain of the adaptive score, mostly communication skills. We also found that there was an age effect on socialization skills. Most skills were learned during infancy and adolescence, especially communication skills, which are highly stable at different ages and highly correlated with IQ...
March 15, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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