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https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#1
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087245/the-severe-clinical-phenotype-for-a-heterozygous-fabry-female-patient-correlates-to-the-methylation-of-non-mutated-allele-associated-with-chromosome-10q26-deletion-syndrome
#2
Mohammad Arif Hossain, Hiroko Yanagisawa, Takashi Miyajima, Chen Wu, Ayumi Takamura, Keiko Akiyama, Rina Itagaki, Kaoru Eto, Takeo Iwamoto, Takayuki Yokoi, Kenji Kurosawa, Hironao Numabe, Yoshikatsu Eto
Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disability. Her father had Fabry disease and died due to chronic renal and congestive cardiac failure. Her paternal uncle had chronic renal failure and intellectual disability, and her paternal aunt was affected with congestive cardiac failure...
January 7, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28087196/improving-hospital-care-of-patients-with-intellectual-and-developmental-disabilities
#3
Sarah H Ailey, Paula J Brown, Caitlin M Ridge
People with intellectual disabilities and developmental disabilities (IDD) face poorer care and outcomes when hospitalized than patients without IDD. A panel discussion Hospital care for individuals with IDD: The Issues and Challenges was held at the Annual Conference of the American Academy of Developmental Medicine and Dentistry, held in Chicago July 8-10, 2016. Among the panelists were representatives from Rush University Medical Center in Chicago, IL and Saint Barnabas Medical Center in Livingston, NJ who discussed efforts to improve hospital care of patients with IDD at their institutions...
January 4, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28079674/borderline-intellectual-functioning-an-update
#4
Stephen Greenspan
PURPOSE OF REVIEW: Borderline intellectual functioning (BIF) is a descriptive v-code that is often used, especially in forensic settings, as if it were a full-fledged disorder. Various historical and other aspects of this classification are reviewed, and commentary is made on the question of whether to upgrade BIF to a regular psychiatric category, or to eliminate it by folding it into an already recently expanded category of intellectual developmental disorder (IDD). RECENT FINDINGS: Full-scale intelligence quotient (IQ) is an outmoded concept that is decreasingly being used...
January 12, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28079314/scn1a-gene-mutation-and-adaptive-functioning-in-18-vietnamese-children-with-dravet-syndrome
#5
Thi Thu Hang Do, Diem My Vu, Thi Thuy Kieu Huynh, Thi Khanh Van Le, Eun Hwa Sohn, Thieu Mai Thao Le, Huu Hao Ha, Chi Bao Bui
BACKGROUND AND PURPOSE: Dravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed to differences in genetic background and epilepsy severity. METHODS: Eighteen Vietnamese children diagnosed with Dravet syndrome were included in this study. SCN1A variants were screened by direct sequencing and multiplex ligation-dependent probe amplification. Adaptive functioning was assessed in all patients using the Vietnamese version of the Vineland Adaptive Behavior Scales, and the results were analyzed relative to the SCN1A variants and epilepsy severity...
January 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28077841/pars2-and-nars2-mutations-in-infantile-onset-neurodegenerative-disorder
#6
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Keitaro Yamada, Tohru Okanishi, Nina Ekhilevitch, Hanna Mandel, Ayelet Eran, Miyuki Toyono, Yukio Sawaishi, Hirotaka Motoi, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs of compound heterozygous mutations, c.[151C>T];[1184T>G] and c.[707T>G];[594+1G>A], and a homozygous mutation, c.[500A>G];[500A>G], in a gene encoding asparaginyl-tRNA synthetase (NARS2) were also identified in the other three families...
January 12, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28077840/novel-gatad2b-loss-of-function-mutations-cause-intellectual-disability-in-two-unrelated-cases
#7
Xiaomei Luo, Yongyi Zou, Bo Tan, Yue Zhang, Jing Guo, Lanlan Zeng, Rui Zhang, Hu Tan, Xianda Wei, Yiqiao Hu, Yu Zheng, Desheng Liang, Lingqian Wu
GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with intellectual disability (ID). In this study, we identified two novel heterozygous frameshift mutations of GATAD2B in two unrelated ID cases through next-generation sequencing (NGS). Both of the mutations c.80_81insGATGT and c.552_555delGAAA cause truncated proteins that might be detrimental to neurodevelopment...
January 12, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#8
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#9
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28075310/intellectual-disability-and-being-human-a-care-ethics-model-rogers-chrissie-intellectual-disability-and-being-human-a-care-ethics-model-174pp-%C3%A2-95-routledge-9780415664585-0415664586-formula-see-text
#10
(no author information available yet)
A strength of this text is how the author combines lived experience, research and academic theory to present a care ethics model for intellectual disabilities. She discusses how the care provided for people with intellectual disability is often done in 'care-less' ways, and offers an alternative philosophy that is 'care-full'.
January 11, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28075089/autism-spectrum-disorder-primary-care-principles
#11
Kristian E Sanchack, Craig A Thomas
Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills...
December 15, 2016: American Family Physician
https://www.readbyqxmd.com/read/28074672/a-power-assisted-exercise-intervention-in-people-with-profound-intellectual-and-multiple-disabilities-living-in-a-residential-facility-a-pilot-randomised-controlled-trial
#12
Leontien Wm Bossink, Annette Aj van der Putten, Aly Waninge, Carla Vlaskamp
OBJECTIVE: To assess the feasibility of conducting a randomised controlled trial to determine the effectiveness of a twenty-week power-assisted exercise intervention in people with profound intellectual and multiple disabilities and to evaluate the potential beneficial effects of this intervention. DESIGN: Pilot randomised controlled trial. SETTING: A large-scale twenty-four-hour residential facility in the Netherlands. SUBJECTS: Thirty-seven persons with profound intellectual and multiple disabilities...
January 1, 2017: Clinical Rehabilitation
https://www.readbyqxmd.com/read/28074630/quantification-of-phenotype-information-aids-the-identification-of-novel-disease-genes
#13
Anneke T Vulto-van Silfhout, Christian Gilissen, Jelle J Goeman, Sandra Jansen, Claudia J M van Amen-Hellebrekers, Bregje W M van Bon, David A Koolen, Erik A Sistermans, Han G Brunner, Arjan P M de Brouwer, Bert B A de Vries
Next generation sequencing led to the identification of many potential novel disease genes. The presence of mutations in the same gene in multiple unrelated patients is, however, a priori insufficient to establish that these genes are truly involved in the respective disease. Here, we show how phenotype information can be incorporated within statistical approaches to provide additional evidence for the causality of mutations. We developed a broadly applicable statistical model that integrates gene-specific mutation rates, cohort size, mutation type and phenotype frequency information to assess the chance of identifying de novo mutations affecting the same gene in multiple patients with shared phenotype features...
January 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/28074354/parent-reported-developmental-regression-in-autism-epilepsy-iq-schizophrenia-spectrum-symptoms-and-special-education
#14
Kenneth D Gadow, Greg Perlman, Rebecca J Weber
Examined the psychiatric and clinical correlates of loss of previously acquired skills (regression) as reported by parents of youth with autism spectrum disorder (ASD). Study sample comprised 6- to 18-year old (N = 213) children and adolescents with ASD. Parents reported regression in 77 (36%) youth. A more homogeneous subgroup with regression between 18 and 36 months (n = 48) had higher rates of intellectual disability, epilepsy, and special education, more socially restrictive educational settings, and more severe ASD communication deficits and schizophrenia spectrum symptoms than non-regressed youth (n = 136)...
January 10, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28073926/mutations-of-pqbp1-in-renpenning-syndrome-promote-ubiquitin-mediated-degradation-of-fmrp-and-cause-synaptic-dysfunction
#15
Xiao-Yan Zhang, Junxia Qi, Yu-Qian Shen, Xian Liu, An Liu, Zikai Zhou, Junhai Han, Zi Chao Zhang
Renpenning syndrome is a group of X-linked intellectual disability (XLID) syndromes caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. Little is known about the molecular pathogenesis of the various mutations that cause the notable variability in patients. In this study, we examine the cellular and synaptic functions of the most common mutations found in the patients: c.461_462delAG, c.459_462delAGAG, and c.463_464dupAG in an AG hexamer in PQBP1 exon 4. We discovered that PQBP1 c.459_462delAGAG and c...
January 10, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28071689/haploinsufficiency-of-ehmt1-improves-pattern-separation-and-increases-hippocampal-cell-proliferation
#16
Marco Benevento, Charlotte A Oomen, Alexa E Horner, Houshang Amiri, Tessa Jacobs, Charlotte Pauwels, Monica Frega, Tjitske Kleefstra, Maksym V Kopanitsa, Seth G N Grant, Timothy J Bussey, Lisa M Saksida, Catharina E E M Van der Zee, Hans van Bokhoven, Jeffrey C Glennon, Nael Nadif Kasri
Heterozygous mutations or deletions of the human Euchromatin Histone Methyltransferase 1 (EHMT1) gene are the main causes of Kleefstra syndrome, a neurodevelopmental disorder that is characterized by impaired memory, autistic features and mostly severe intellectual disability. Previously, Ehmt1(+/-) heterozygous knockout mice were found to exhibit cranial abnormalities and decreased sociability, phenotypes similar to those observed in Kleefstra syndrome patients. In addition, Ehmt1(+/-) knockout mice were impaired at fear extinction and novel- and spatial object recognition...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28070932/the-experience-of-adult-children-of-mothers-with-intellectual-disability-a-qualitative-retrospective-study-from-poland
#17
Agnieszka Wołowicz-Ruszkowska, David McConnell
BACKGROUND: Little is known about the experience of growing up with a mother with intellectual disability. The aim of this study was to explore this experience from the perspective of adult children. METHOD: In-depth interviews with 23 adult children brought up by mothers with moderate-to-severe intellectual disability. The interview data were analysed using grounded theory methods. RESULTS: The childhood experiences of the interviewees and the role their mothers played in their upbringing varied, depending in part on the involvement of extended family...
January 10, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28070922/an-open-label-randomized-control-trial-of-hopping-and-jumping-training-versus-sensorimotor-rehabilitation-programme-on-postural-capacities-in-individuals-with-intellectual-disabilities
#18
Rihab Borji, Sonia Sahli, Rym Baccouch, Rabeb Laatar, Hiba Kachouri, Haithem Rebai
BACKGROUND: This study aimed to compare the effectiveness of a hopping and jumping training programme (HJP) versus a sensorimotor rehabilitation programme (SRP) on postural performances in children with intellectual disability. METHODS: Three groups of children with intellectual disability participated in the study: the HJP group, the SRP group and a control group. Postural capacities were tested with the Berg Balance Scale (BBS) and the Tinetti tests. The HJP and the SRP groups participated in the training programmes for eight weeks...
January 10, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28070781/the-support-needs-of-children-with-intellectual-disability-and-autism-implications-for-supports-planning-and-subgroup-classification
#19
Karrie A Shogren, Leslie A Shaw, Michael L Wehmeyer, James R Thompson, Kyle M Lang, Marc J Tassé, Robert L Schalock
The Supports Intensity Scale-Children's version (SIS-C) was developed to provide a standardized measure of support needs of children with intellectual disability. Over half of the norming sample had a secondary diagnosis of autism. Using this subset of the sample, we engaged in exploratory analysis to examine the degree to which latent clusters were present in the data, and after identifying these clusters, the degree to which they mapped on the SIS-C standard scores. A four latent class solution provided the best fit to the data...
January 9, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28069794/brain-ventriculomegaly-in-down-syndrome-mice-is-caused-by-pcp4-dose-dependent-cilia-dysfunction
#20
Matthieu Raveau, Takashi Nakahari, Sachie Asada, Keiichi Ishihara, Kenji Amano, Atsushi Shimohata, Haruhiko Sago, Kazuhiro Yamakawa
Down syndrome is a leading cause of congenital intellectual disability caused by an additional copy of the chromosome 21. Patients display physiological and morphological changes affecting the brain and its function. Previously we showed that Ts1Cje and Ts2Cje, Down syndrome mouse models carrying overlapping trisomic segments of different length, show similar ventriculomegaly and neurogenesis dysfunction leading to the hypothesis of a cause-consequence relationship between these phenotypes. However, we here discovered that Ts1Rhr Down syndrome model, carrying an even shorter trisomic segment, was sufficient to trigger ventricular enlargement and ependymal cilia beating deficiency without affecting neurogenesis...
January 9, 2017: Human Molecular Genetics
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