scholarly journals Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

2014 ◽  
Vol 17 (6) ◽  
pp. 460-466 ◽  
Author(s):  
Nina De Rocker ◽  
Sarah Vergult ◽  
David Koolen ◽  
Eva Jacobs ◽  
Alexander Hoischen ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Deletion Region

scholarly journals Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disability

2021 ◽  
Vol 7 (13) ◽  
pp. eabf3072
Author(s):  
Y. Nagayoshi ◽  
T. Chujo ◽  
S. Hirata ◽  
H. Nakatsuka ◽  
C.-W. Chen ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
State Level ◽  
Memory Deficits ◽  
Ribosome Profiling ◽  
Translation Efficiency ◽  
Trna Modification ◽  
Synaptic Organization ◽  
Transfer Rnas ◽  
The Brain

FtsJ RNA 2′-O-methyltransferase 1 (FTSJ1) gene has been implicated in X-linked intellectual disability (XLID), but the molecular pathogenesis is unknown. We show that Ftsj1 is responsible for 2′-O-methylation of 11 species of cytosolic transfer RNAs (tRNAs) at the anticodon region, and these modifications are abolished in Ftsj1 knockout (KO) mice and XLID patient–derived cells. Loss of 2′-O-methylation in Ftsj1 KO mouse selectively reduced the steady-state level of tRNAPhe in the brain, resulting in a slow decoding at Phe codons. Ribosome profiling showed that translation efficiency is significantly reduced in a subset of genes that need to be efficiently translated to support synaptic organization and functions. Ftsj1 KO mice display immature synaptic morphology and aberrant synaptic plasticity, which are associated with anxiety-like and memory deficits. The data illuminate a fundamental role of tRNA modification in the brain through regulation of translation efficiency and provide mechanistic insights into FTSJ1-related XLID.

Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function

2017 ◽  
Vol 173 (3) ◽  
pp. 716-720 ◽  
Author(s):  
Caroline McCool ◽  
Adiaha Spinks-Franklin ◽  
Lenora M. Noroski ◽  
Lorraine Potocki
Keyword(s):  
Intellectual Disability ◽  
Cognitive Function

Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function

2013 ◽  
Vol 44 (05) ◽  
pp. 268-271 ◽  
Author(s):  
Moneef Shoukier ◽  
Sigrid Fuchs ◽  
Eva Schwaibold ◽  
Michael Lingen ◽  
Jutta Gärtner ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Cognitive Function ◽  
Normal Cognitive Function

scholarly journals Resiliensi Keluarga yang Memiliki Anak Tunagrahita: Bagaimana Peran Koherensi Keluarga?

2020 ◽  
Vol 8 (1) ◽  
pp. 101-111
Author(s):  
Alifah Nuke Febrianty ◽  
Alabanyo Brebahama ◽  
Melok Roro Kinanthi
Keyword(s):  
Intellectual Disability ◽  
Sense Of Coherence ◽  
Daily Living ◽  
Sampling Method ◽  
Family Resilience ◽  
Purposive Sampling ◽  
Regression Test ◽  
Positive Perspective ◽  
The One

Tunagrahita merupakan salah satu jenis disabilitas yang membuat penyandangnya memiliki inteligensi jauh di bawah rata-rata serta kemampuan bina bantu diri yang terbatas. Hambatan tersebut membuat anak tunagrahita menjadi kurang mandiri sehingga orang tua harus memberikan perhatian serta bantuan yang lebih besar dibandingkan dengan anak pada umumnya. Hal inilah yang dapat menjadi stressor bagi keluarga terutama ibu yang merupakan caregiver utama pada anak karena ibulah yang paling banyak meluangkan waktu untuk pengasuhan sang anak. Oleh karena itu dibutuhkan ketangguhan keluarga dalam menghadapi masalah terkait kehadiran anak tunagrahita. Resiliensi keluarga dianggap sukses bila keluarga dapat bertahan dari kesulitan dan mengambil makna dari kesulitan yang dihadapi. Salah satu cara untuk dapat resilien adalah dengan mengembangkan pandangan positif saat menghadapi masalah yang disebut juga sebagai koherensi keluarga. Penelitian ini bertujuan untuk mengetahui sejauh mana peran koherensi keluarga terhadap resiliensi keluarga yang memiliki anak tunagrahita dari perspektif ibu. Partisipan pada penelitian ini sebanyak 60 orang ibu yang memiliki anak tunagrahita, berdomisili di wilayah Jakarta, Bogor, Depok, Tangerang, dan Bekasi yang dipilih menggunakan metode  purposive sampling ­. Alat ukur yang digunakan yaitu Walsh Family Resilience Questionnaire (WFRQ) untuk mengukur resiliensi keluarga dan Family Sense of Coherence Scale (FSOCS) untuk mengukur family sense of coherence. Berdasarkan hasil uji regresi, didapatkan hasil bahwa family sense of coherence berperan secara signifikan (p 0,05) terhadap resiliensi keluarga (R-square= 0,235). Hal ini berarti koherensi keluarga berperan sebesar 23,5% terhadap resiliensi keluarga dan 76,5% lainnya dipengaruhi oleh faktor lain. Terkait dengan hal ini, upaya meningkatkan resiliensi keluarga dapat dilakukan dengan membantu keluarga mengembangkan perspektif positif dalam melihat situasi yang terjadi, menumbuhkan optimisme, dan mengedukasi keluarga untuk dapat memanfaatkan sumber daya di sekitarnya untuk membantu atasi situasi. Intellectual disability is the one of disability in which the individu has intellectual far below the average, and limitation in activity daily living. This limitation makes the children with intellectual disability have low autonomy cause parents should give care and assitaant more then usual. This condition can be the one of stressor for family, especially for the mother as caregiver who give more time to practice parenting for their children. So, family resillience is very important to face the emergence of intellectual disability children in family. In order to be resillient, a family should have positive perspective when facing the problem, called sense of coherence. The purpose of this research is finding the role of family sense of coherence towards family resillience among family who has intellectual disability children. The participant of this research is 60 mothers who have intellectual disability children and live in Jakarta, Bogor, Depok, Tangerang, and Bekasi (Jabodetabek). The participants is selected by using purposive sampling method. This research uesd Family Resilience Questionnaire (WFRQ) to measure family resillience, and Family Sense of Coherence Scale (FSOCS) to measure family sense of corerence. Based on regression test, family sense of corerence has significant role towards family resilience (R Square = 0,235, p 0,05). It meanse that family sense of coherence gives contribution about 23,5 % to family resillience, and 76,5 % influenced by another factors. As the conslusion, family can be more resillient if it develops positive perspective when facing problem, build optimism, and use every resources wisely in order to solve problem. 

scholarly journals Parents’ Perception Having Children with Intellectual Disability Providing Sex Education

2017 ◽  
Vol 2 (2) ◽  
pp. 164 ◽  
Author(s):  
Dwi Karina Ariadni ◽  
Yayi Suryo Prabandari ◽  
Sumarni DW
Keyword(s):  
Intellectual Disability ◽  
Sex Education ◽  
Group Discussion ◽  
Phenomenological Approach ◽  
Normal Children ◽  
Face To Face ◽  
Role Of Parents ◽  
Depth Interviews ◽  
Children With Intellectual Disability

Introduction: Children with intellectual disability have the same sexual needs as the average children. Parents are their children’s primary sex educators, but many parents are afraid of talking to their children about sex. The purpose of this study to explore the perception of parents in providing sex education to children with intellectual disability. Methods: A qualitative study using phenomenological approach. Focus group discussion (FGD) and in-depth interviews (face-to-face) with ten parents having children with mild or moderate intellectual disability, aged nine-eighteen years registered at SLB Negeri 1 Yogyakarta. Colaizzi method was used to identify core themes and patterns. Results: Four themes were found: the importance of sex education for children with intellectual disability, the mother has the most important role in providing sex education, the distinction of sex education for children with intellectual disability, religion is important in sex education. Conclusions: Perception of parents in providing sex education to children with intellectual disability is different from parents with normal children. Parents should be earlier deliver sex education to protect them from sex abuse and the method of giving sex education with practice. The role of parents, especially mother is very important to provide sex education than father.

scholarly journals Self-Determination in People with Intellectual Disability: The Mediating Role of Opportunities

2020 ◽  
Vol 17 (17) ◽  
pp. 6201
Author(s):  
Eva Vicente ◽  
Cristina Mumbardó-Adam ◽  
Verónica M. Guillén ◽  
Teresa Coma-Roselló ◽  
María-Ángeles Bravo-Álvarez ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Self Regulation ◽  
Self Determination ◽  
Persons With Disabilities ◽  
Mediating Role ◽  
Almost All ◽  
Disability Level ◽  
At Home

The Convention on the Rights of Persons with Disabilities have proclaimed the basic right of people to make one’s own choices, have an effective participation and inclusion. Research in the field of disability have stressed self-determination as a key construct because of its impact on their quality of life and the achievement of desired educational and adulthood related outcomes. Self-determination development must be promoted through specific strategies and especially, by providing tailored opportunities to practice those skills. Providing these opportunities across environments could be especially relevant as a facilitator of self-determination development. This manuscript aims to ascertain if opportunities at home and in the community to engage in self-determined actions are mediating the relationship between people intellectual disability level and their self-determination. Results have confirmed direct effects of intellectual disability level on self-determination scores. Indirect effects also predicted self-determination and almost all its related components (self-initiation, self-direction, self-regulation, self-realization, and empowerment) through opportunities in the community and at home. Autonomy was predicted by the intellectual disability level through an indirect effect of opportunities at home, but not in the community. These results highlight the need for further research to better operationalize and promote contextually rooted opportunities for people with intellectual disability to become more self-determined.

scholarly journals Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Ute Scheller ◽  
Kathrin Pfisterer ◽  
Steffen Uebe ◽  
Arif B. Ekici ◽  
André Reis ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Mrna Decay ◽  
Bioinformatics Analysis
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