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Tytuł:
Use of ECT in Autism Spectrum Disorder and/or Intellectual Disability: A Single Site Retrospective Analysis.
Autorzy:
Smith JR; Division of Child and Adolescent Psychiatry, Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center at Village of Vanderbilt, 1500 21st Avenue South, Suite 2200, Nashville, TN, 37212, USA. .; Vanderbilt Kennedy Center, Vanderbilt University, 110 Magnolia Circle, Nashville, TN, 37203, USA. .
Hopkins CE; Division of General Psychiatry, Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, 1601 23rd Ave South, Nashville, TN, 37212, USA.
Xiong J; Department of Biostatistics, Vanderbilt University, 2424 West End Avenue, Suite 1100, Nashville, TN, 37203, USA.
Luccarelli J; Division of Child and Adolescent Psychiatry, Department of Psychiatry, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA.; Department of Psychiatry, Harvard Medical School, 25 Shattuck Street, Boston, MA, 02115, USA.
Shultz E; Division of General Psychiatry, Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, 1601 23rd Ave South, Nashville, TN, 37212, USA.
Vandekar S; Department of Biostatistics, Vanderbilt University, 2424 West End Avenue, Suite 1100, Nashville, TN, 37203, USA.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Mar; Vol. 54 (3), pp. 963-982. Date of Electronic Publication: 2022 Dec 17.
Typ publikacji:
Journal Article
MeSH Terms:
Electroconvulsive Therapy*
Intellectual Disability*/epidemiology
Intellectual Disability*/therapy
Autism Spectrum Disorder*/therapy
Humans ; Retrospective Studies ; Documentation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Protective factors against the emotional impact of the pandemic in adults with autism spectrum disorders (ASD) and intellectual disability (ID).
Autorzy:
Jodra M; Department of Personality, Evaluation and Clinical Psychology, Universidad Complutense de Madrid, Rector Royo Villanova s/n, Ciudad Universitaria, 28040, Madrid, Spain. .; Asociación Nuevo Horizonte, Las Rozas, Madrid, Spain. .
García-Villamisar D; Department of Personality, Evaluation and Clinical Psychology, Universidad Complutense de Madrid, Rector Royo Villanova s/n, Ciudad Universitaria, 28040, Madrid, Spain.
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Źródło:
Scientific reports [Sci Rep] 2024 Feb 22; Vol. 14 (1), pp. 4341. Date of Electronic Publication: 2024 Feb 22.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/epidemiology
Autism Spectrum Disorder*/psychology
Intellectual Disability*/epidemiology
Intellectual Disability*/psychology
Adult ; Humans ; Pandemics ; Protective Factors ; Quality of Life
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Rare neurodevelopmental conditions and parents' mental health - how and when does genetic diagnosis matter?
Autorzy:
Chi Z; MRC Cognition and Brain Sciences Unit, University of Cambridge, 15 Chaucer Road, CB2 7EF, Cambridge, UK.
Devine RT; School of Psychology, University of Birmingham, Birmingham, UK.
Wolstencroft J; UCL Great Ormond Street Institute of Child Health, London, UK.
Skuse D; UCL Great Ormond Street Institute of Child Health, London, UK.
Hughes C; Centre for Family Research, Department of Psychology, University of Cambridge, Cambridge, UK.
Baker K; MRC Cognition and Brain Sciences Unit, University of Cambridge, 15 Chaucer Road, CB2 7EF, Cambridge, UK. .; Department of Medical Genetics, University of Cambridge, Cambridge, UK. .
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Corporate Authors:
IMAGINE-ID consortium
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 15; Vol. 19 (1), pp. 70. Date of Electronic Publication: 2024 Feb 15.
Typ publikacji:
Journal Article
MeSH Terms:
Mental Health*
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Child ; Humans ; Adolescent ; Parents/psychology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study.
Autorzy:
Zhao T; Shanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Biomedical Informatics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Wu S; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Shen Y; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, USA.
Leng J; Wellness Center, 16 Philadelphia Ave, Shillington, PA, 19607, USA.
Genchev GZ; Center of Excellence in Computational Molecular Biology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Lu H; Shanghai Engineering Research Center for Big Data in Pediatric Precision Medicine, Center for Biomedical Informatics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Feng J; Department of Rehabilitation, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. .; Diagnosis and Treatment Center of Pitt-Hopkins Syndrome, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 08; Vol. 19 (1), pp. 51. Date of Electronic Publication: 2024 Feb 08.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Intellectual Disability*/diagnosis
Child ; Humans ; Retrospective Studies ; Follow-Up Studies ; Prospective Studies ; Transcription Factor 4/genetics ; Hyperventilation/genetics ; Hyperventilation/diagnosis ; Facies ; China
SCR Disease Name:
Pitt-Hopkins syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Missed opportunities for HIV testing and sexual health-related challenges in an individual with intellectual disability: a case report.
Autorzy:
Würfel LM; WIR-Walk In Ruhr - Center for Sexual Health and Medicine, Große Beckstraße 12, 44787, Bochum, Germany.; Interdisciplinary Immunological Outpatient Clinic, Center for Sexual Health and Medicine, Department of Dermatology, Venereology and Allergology, Ruhr-Universität Bochum, Bochum, Germany.
Potthoff A; WIR-Walk In Ruhr - Center for Sexual Health and Medicine, Große Beckstraße 12, 44787, Bochum, Germany.; Interdisciplinary Immunological Outpatient Clinic, Center for Sexual Health and Medicine, Department of Dermatology, Venereology and Allergology, Ruhr-Universität Bochum, Bochum, Germany.
Nambiar S; WIR-Walk In Ruhr - Center for Sexual Health and Medicine, Große Beckstraße 12, 44787, Bochum, Germany.
Skaletz-Rorowski A; WIR-Walk In Ruhr - Center for Sexual Health and Medicine, Große Beckstraße 12, 44787, Bochum, Germany. .; Interdisciplinary Immunological Outpatient Clinic, Center for Sexual Health and Medicine, Department of Dermatology, Venereology and Allergology, Ruhr-Universität Bochum, Bochum, Germany. .
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Źródło:
AIDS research and therapy [AIDS Res Ther] 2024 Apr 05; Vol. 21 (1), pp. 20. Date of Electronic Publication: 2024 Apr 05.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
HIV Infections*/complications
HIV Infections*/diagnosis
Acquired Immunodeficiency Syndrome*
Sexual Health*
Intellectual Disability*/diagnosis
Male ; Humans ; Middle Aged ; Retrospective Studies ; Early Detection of Cancer ; HIV Testing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.
Autorzy:
Rao S; Department of Biological Sciences, Neurobiology Section, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, 90089, USA. .; Neuroscience Graduate Program, University of Southern California, Los Angeles, CA, 90089, USA. .
Sadybekov A; Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA.; Department of Chemistry, University of Southern California, Los Angeles, CA, 90089, USA.
DeWitt DC; Department of Pathology, Genentech, Inc., South San Francisco, CA, 94080, USA.
Lipka J; Department of Neuroscience, Genentech, Inc., South San Francisco, CA, 94080, USA.
Katritch V; Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, 90089, USA. .; Department of Chemistry, University of Southern California, Los Angeles, CA, 90089, USA. .
Herring BE; Department of Biological Sciences, Neurobiology Section, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, 90089, USA. .; Neuroscience Graduate Program, University of Southern California, Los Angeles, CA, 90089, USA. .
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Źródło:
Molecular autism [Mol Autism] 2024 Apr 03; Vol. 15 (1), pp. 12. Date of Electronic Publication: 2024 Apr 03.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/genetics
Autism Spectrum Disorder*/metabolism
Intellectual Disability*/genetics
Intellectual Disability*/metabolism
Humans ; HEK293 Cells ; Mutation ; Mutation, Missense ; Neurons/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Age- and Gender-Specific Prevalence of Intellectually Disabled Population in India.
Autorzy:
Kapoor M; Economics and Planning Unit, Indian Statistical Institute, New Delhi 110016, India.
Ambade M; Laxmi Mittal and Family South Asia Institute, Harvard University, 110001, New Delhi, India.
Ravi S; Observer Research Foundation, Delhi, India. .
Subramanian SV; Harvard Center for Population and Development Studies, 9 Bow Street, 02138, Cambridge, MA, USA. .; Department of Social and Behavioral Sciences, Harvard T. H. Chan School of Public Health, Boston, MA, USA. .
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Apr; Vol. 54 (4), pp. 1594-1604. Date of Electronic Publication: 2023 Jan 13.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/epidemiology
Autism Spectrum Disorder*
Disabled Persons*
Humans ; Male ; Female ; Prevalence ; Socioeconomic Factors ; Sexism ; India/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Relationship between serum cortisol levels, stereotypies, and the presence of autism spectrum disorder in patients with severe intellectual disability.
Autorzy:
Ohtsubo T; Department of Psychiatry, National Hospital Organization Hizen Psychiatric Medical Center, 160 Mitsu, Yoshinogari, Kanzaki, Saga, 842-0192, Japan. .
Mizoguchi Y; Department of Psychiatry, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
Aita C; Department of Psychiatry, National Hospital Organization Hizen Psychiatric Medical Center, 160 Mitsu, Yoshinogari, Kanzaki, Saga, 842-0192, Japan.
Imamura Y; Department of Psychiatry, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
Kobayashi M; Department of Psychiatry, National Hospital Organization Hizen Psychiatric Medical Center, 160 Mitsu, Yoshinogari, Kanzaki, Saga, 842-0192, Japan.; Kyushu University, 744 Motooka, Nishi-ku, Fukuoka, 819-0395, Japan.
Kunitake Y; Department of Psychiatry, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
Tateishi H; Department of Psychiatry, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
Ueno T; Department of Psychiatry, National Hospital Organization Hizen Psychiatric Medical Center, 160 Mitsu, Yoshinogari, Kanzaki, Saga, 842-0192, Japan.
Monji A; Department of Psychiatry, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
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Źródło:
Scientific reports [Sci Rep] 2024 Mar 26; Vol. 14 (1), pp. 7139. Date of Electronic Publication: 2024 Mar 26.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/diagnosis
Intellectual Disability*/diagnosis
Stereotypic Movement Disorder*/complications
Humans ; Hydrocortisone ; Stereotyped Behavior
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Autorzy:
Bosman W; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.
Franken GAC; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.
de Las Heras J; Division of Pediatric Metabolism, Cruces University Hospital, CIBER-ER, Metab-ERN, University of the Basque Country (UPV/EHU), Biobizkaia Health Research Institute, Barakaldo, Spain.
Madariaga L; Pediatric Nephrology Department, Cruces University Hospital, CIBERDEM, CIBER-ER, Endo-ERN, Biocruces Bizkaia Health Research Institute and University of the Basque Country (UPV/EHU), Barakaldo, Spain.
Barakat TS; Deparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.
Oostenbrink R; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of General Pediatrics, Erasmus Medical Center Sophia Children's Hospital, Rotterdam, The Netherlands.
van Slegtenhorst M; Deparment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Perdomo-Ramírez A; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
Claverie-Martín F; Unidad de Investigación, Renal Tube Group, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.
van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Vargas-Poussou R; Service de medecine genomique des maladies rares, AP-HP, universite Paris Cité, Paris, France.; Centre de reference des maladies renales hereditaires de l'enfant et de l'adulte MARHEA, hopital Européen Georges Pompidou, Paris, France.; CNRS, centre de recherche des Cordeliers, Inserm UMRS 1138, Sorbonne universite, universite Paris Cité, Paris, France.
Dubourg LD; Hôpital Édouard Herriot, Hospices civils de Lyon, service de nephrologie, dialyse, hypertension et exploration fonctionnelle renale, Lyon, France.; Centre de reference des maladies renales rares et phosphocalciques, Nephrogones, Hôpital Femme-Mère-Enfant Bron, Bron, France.; Faculté de medecine Lyon est, Université Claude Bernard Lyon 1, Villeurbanne, France.
González-Recio I; Center for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, Bizkaia, Spain.
Martínez-Cruz LA; Center for Cooperative Research in Biosciences (CIC bioGUNE), Bizkaia Science and Technology Park, Derio, Bizkaia, Spain.
de Baaij JHF; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands.
Hoenderop JGJ; Department of Medical BioSciences, Radboudumc, Nijmegen, The Netherlands. .
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Źródło:
Scientific reports [Sci Rep] 2024 Mar 22; Vol. 14 (1), pp. 6917. Date of Electronic Publication: 2024 Mar 22.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Cation Transport Proteins*/genetics
Humans ; Magnesium/metabolism ; Seizures/genetics ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Caregivers' concerns about the sexual and reproductive health of women with intellectual disability in Iran: a qualitative study.
Autorzy:
Taghizadeh Z; Reproductive Health and Midwifery Department, Nursing and Midwifery Care Research Center, School of Nursing & Midwifery, Tehran University of Medical Sciences, Tehran, Iran.
Farmahini Farahani M; Department of Midwifery, Faculty of Nursing and Midwifery, Tehran Medical Science, Islamic Azad University, Tehran, Iran. .
Nourollahpour Shiadeh M; Sexual and Reproductive Health Research Center, Mazandaran University of Medical Sciences, Sari, Iran.
Qaderi K; Midwifery Department, School of Nursing and Midwifery, Kermanshah University of Medical Sciences, Kermanshah, Iran.
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Źródło:
Reproductive health [Reprod Health] 2024 Mar 12; Vol. 21 (1), pp. 35. Date of Electronic Publication: 2024 Mar 12.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*
Sexual Health*
Humans ; Female ; Reproductive Health ; Caregivers ; Iran ; Hygiene ; Menstruation ; Qualitative Research
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.
Autorzy:
Chaves TF; Laboratório de Polimorfismos Genéticos (LAPOGE), Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil. .; Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil. .
Ocampos M; Laboratory Neurogene (former), Florianopolis, SC, Brazil.; Mercolab Diagnóstica (actual), Florianopolis, SC, Brazil.
Barbato IT; Laboratory Neurogene, Florianópolis, SC, Brazil.
de Camargo Pinto LL; Children's Hospital Joana de Gusmão, Florianópolis, SC, Brazil.
de Luca GR; Children's Hospital Joana de Gusmão, Florianópolis, SC, Brazil.
Barbato Filho JH; Laboratory Neurogene, Florianópolis, SC, Brazil.
Bernardi P; University Hospital Professor Polydoro Ernani de São Thiago, Florianópolis, SC, Brazil.
Costa Netto Muniz Y; Laboratório de Polimorfismos Genéticos (LAPOGE), Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil.
Francesca Maris A; Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil. .; Children's Hospital Joana de Gusmão, Florianópolis, SC, Brazil. .
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Źródło:
Scientific reports [Sci Rep] 2024 Feb 14; Vol. 14 (1), pp. 3762. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/diagnosis
Autism Spectrum Disorder*/genetics
Neurodevelopmental Disorders*/diagnosis
Neurodevelopmental Disorders*/genetics
Intellectual Disability*/genetics
Intellectual Disability*/diagnosis
South American People*
Child ; Humans ; Cohort Studies ; Retrospective Studies ; Brazil/epidemiology ; DNA Copy Number Variations/genetics ; Uniparental Disomy ; Chromosomes
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.
Autorzy:
Yang Q; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Ou S; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Zhou X; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yi S; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Lin L; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yi S; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Zhang S; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Qin Z; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Luo J; Guangxi Key Laboratory of Birth Defects Research and Prevention, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Department of Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2408.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Intellectual Disability*/diagnosis
Musculoskeletal Abnormalities*
Humans ; Cafe-au-Lait Spots/genetics ; Speech ; Family ; Body Weight ; RNA-Binding Proteins
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.
Autorzy:
Lou Y; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Shi X; Department of Pediatrics, Suichang Branch of the Second Affiliated Hospital School of Medicine, Zhejiang University, Hangzhou, China.
Su G; Department of Pediatrics, Songyang Branch of the Second Affiliated Hospital School of Medicine, Zhejiang University, Hangzhou, China.
Guo Y; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Gao L; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Wang Y; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Miao P; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Feng J; Department of Pediatrics, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2389.
Typ publikacji:
Journal Article
MeSH Terms:
Mental Retardation, X-Linked*/genetics
Intellectual Disability*/genetics
Intellectual Disability*/diagnosis
Neurodevelopmental Disorders*
Male ; Child ; Humans ; Developmental Disabilities/genetics ; RNA Splicing ; Adaptor Proteins, Signal Transducing/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Social Interaction Profiles Among Youth with Intellectual Disabilities: Associations with Indicators of Psychosocial Adjustment.
Autorzy:
Dubé C; Substantive-Methodological Synergy Research Laboratory, Department of Psychology, Concordia University, 7141 Sherbrooke W, H4B 1R6, Montreal, QC, Canada.
Morin AJS; Substantive-Methodological Synergy Research Laboratory, Department of Psychology, Concordia University, 7141 Sherbrooke W, H4B 1R6, Montreal, QC, Canada. .
Tóth-Király I; Substantive-Methodological Synergy Research Laboratory, Department of Psychology, Concordia University, 7141 Sherbrooke W, H4B 1R6, Montreal, QC, Canada.
Olivier E; Département de psychopédagogie et d'andragogie, Université de Montréal, Montréal, Canada.
Tracey D; School of Education, Translational Health Research Institute, Western Sydney University, Sydney, Australia.
McCune VS; Substantive-Methodological Synergy Research Laboratory, Department of Psychology, Concordia University, 7141 Sherbrooke W, H4B 1R6, Montreal, QC, Canada.
Craven RG; Institute for Positive Psychology and Education, Australian Catholic University, Sydney, Australia.
Maïano C; Cyberpsychology Laboratory, Department of Psychoeducation and Psychology, Université du Québec en Outaouais (UQO|Campus de Saint-Jérôme), Saint-Jérome, Canada.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Feb; Vol. 54 (2), pp. 458-476. Date of Electronic Publication: 2022 Nov 07.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/psychology
Autism Spectrum Disorder*
Humans ; Adolescent ; Child ; Young Adult ; Adult ; Social Interaction ; Peer Group ; Aggression
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The influence of sex on major psychiatric comorbidities and parental psychiatric disorders in 22,698 children and adolescents with ICD-9-CM-based autism spectrum disorder.
Autorzy:
Hsu JW; Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Psychiatry, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Chen LC; Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Psychiatry, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Department of Psychiatry, General Cheng Hsin Hospital, Taipei, Taiwan.
Huang KL; Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Psychiatry, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Tsai SJ; Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Psychiatry, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Bai YM; Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Psychiatry, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Su TP; Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan.; Department of Psychiatry, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Department of Psychiatry, General Cheng Hsin Hospital, Taipei, Taiwan.
Chen TJ; Department of Family Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.; Institute of Hospital and Health Care Administration, National Yang Ming Chiao Tung University, Taipei, Taiwan.; Department of Family Medicine, Taipei Veterans General Hospital, Hsinchu Branch, Xinzhu, Taiwan.
Chen MH; Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan. .; Department of Psychiatry, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan. .; Department of Medical Research, Taipei Veterans General Hospital, No. 201, Sec. 2, Shih-Pai Road, Taipei, 112, Taiwan. .
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Źródło:
European archives of psychiatry and clinical neuroscience [Eur Arch Psychiatry Clin Neurosci] 2024 Feb; Vol. 274 (1), pp. 19-25. Date of Electronic Publication: 2022 Dec 02.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/complications
Intellectual Disability*/epidemiology
Intellectual Disability*/complications
Attention Deficit Disorder with Hyperactivity*/psychology
Male ; Child ; Humans ; Female ; Adolescent ; International Classification of Diseases ; Parents
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Longitudinal Associations Between Relationship Quality and Depression Among Youth with Intellectual Disabilities: A Latent Change Perspective.
Autorzy:
Dubé C; Substantive-Methodological Synergy Research Laboratory, Department of Psychology, Concordia University, 7141 Sherbrooke W, Montreal, QC, H4B 1R6, Canada.
Morin AJS; Substantive-Methodological Synergy Research Laboratory, Department of Psychology, Concordia University, 7141 Sherbrooke W, Montreal, QC, H4B 1R6, Canada. .
Olivier E; Département de psychopédagogie et d'andragogie, Université de Montréal, Montréal, Canada.
Tóth-Király I; Substantive-Methodological Synergy Research Laboratory, Department of Psychology, Concordia University, 7141 Sherbrooke W, Montreal, QC, H4B 1R6, Canada.
Tracey D; School of Education, Translational Health Research Institute, Western Sydney University, Sydney, Australia.
Craven RG; Institute for Positive Psychology and Education, Australian Catholic University, Sydney, Australia.
Maïano C; Cyberpsychology Laboratory, Department of Psychoeducation and Psychology, Université du Québec en Outaouais (UQO|Campus de Saint-Jérôme), Saint-Jérome, Canada.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Feb; Vol. 54 (2), pp. 673-690. Date of Electronic Publication: 2022 Nov 27.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*
Autism Spectrum Disorder*
Humans ; Adolescent ; Child ; Young Adult ; Adult ; Depression ; Parents ; Self Report
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Emotion recognition and social functioning in individuals with autism spectrum condition and intellectual disability.
Autorzy:
Tamas D; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia.
Brkic Jovanovic N; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia.
Stojkov S; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia.
Cvijanović D; Faculty of Medicine, University of Novi Sad, Novi Sad, Serbia.
Meinhardt-Injac B; Catholic University of Applied Sciences Berlin, Berlin, Germany.
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Źródło:
PloS one [PLoS One] 2024 Mar 21; Vol. 19 (3), pp. e0300973. Date of Electronic Publication: 2024 Mar 21 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Autistic Disorder*/psychology
Intellectual Disability*/psychology
Autism Spectrum Disorder*/psychology
Facial Recognition*
Adult ; Humans ; Social Interaction ; Emotions ; Facial Expression
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Analyses of Conditional Knockout Mice for Pogz , a Gene Responsible for Neurodevelopmental Disorders in Excitatory and Inhibitory Neurons in the Brain.
Autorzy:
Hamada N; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Nishijo T; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Iwamoto I; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.
Shifman S; Department of Genetics, The Alexander Silberman Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem 91904, Israel.
Nagata KI; Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai 480-0392, Japan.; Department of Neurochemistry, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
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Źródło:
Cells [Cells] 2024 Mar 19; Vol. 13 (6). Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Neurodevelopmental Disorders*/genetics
Animals ; Humans ; Mice ; Brain ; Mice, Knockout ; Neurons/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders.
Autorzy:
Grandi M; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Galber C; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.; Institute of Neuroscience, Consiglio Nazionale delle Ricerche, 35121 Padova, Italy.
Gatto C; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Nobile V; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.
Pucci C; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.
Schaldemose Nielsen I; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Boldrin F; Department of Biology, University of Padova, 35121 Padova, Italy.
Neri G; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.
Chiurazzi P; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.; UOC Medical Genetics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Solaini G; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Baracca A; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.
Giorgio V; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40126 Bologna, Italy.; Institute of Neuroscience, Consiglio Nazionale delle Ricerche, 35121 Padova, Italy.
Tabolacci E; Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 18; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 18.
Typ publikacji:
Journal Article
MeSH Terms:
Fragile X Syndrome*/metabolism
Intellectual Disability*/genetics
Mitochondrial Diseases*/genetics
Humans ; Fragile X Mental Retardation Protein/genetics ; Cell Death/genetics ; Mutation ; Trinucleotide Repeat Expansion
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Differential contribution of canonical and noncanonical NLGN3 pathways to early social development and memory performance.
Autorzy:
Li LY; Department of Molecular Neuroscience, Faculty of Medicine, University of Toyama, Toyama, 930-0194, Japan.
Imai A; Department of Molecular Neuroscience, Faculty of Medicine, University of Toyama, Toyama, 930-0194, Japan.; Research Center for Idling Brain Science, University of Toyama, Toyama, 930-0194, Japan.
Izumi H; Department of Molecular Neuroscience, Faculty of Medicine, University of Toyama, Toyama, 930-0194, Japan.; Research Center for Idling Brain Science, University of Toyama, Toyama, 930-0194, Japan.
Inoue R; Department of Molecular Neuroscience, Faculty of Medicine, University of Toyama, Toyama, 930-0194, Japan.; Research Center for Idling Brain Science, University of Toyama, Toyama, 930-0194, Japan.
Koshidaka Y; Division of Experimental Animal Resource and Development, Life Science Research Center, University of Toyama, Toyama, 930-0194, Japan.
Takao K; Research Center for Idling Brain Science, University of Toyama, Toyama, 930-0194, Japan.; Division of Experimental Animal Resource and Development, Life Science Research Center, University of Toyama, Toyama, 930-0194, Japan.; Department of Behavioral Physiology, Faculty of Medicine, University of Toyama, Toyama, 930-0194, Japan.
Mori H; Department of Molecular Neuroscience, Faculty of Medicine, University of Toyama, Toyama, 930-0194, Japan.; Research Center for Idling Brain Science, University of Toyama, Toyama, 930-0194, Japan.
Yoshida T; Department of Molecular Neuroscience, Faculty of Medicine, University of Toyama, Toyama, 930-0194, Japan. .; Research Center for Idling Brain Science, University of Toyama, Toyama, 930-0194, Japan. .
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Źródło:
Molecular brain [Mol Brain] 2024 Mar 12; Vol. 17 (1), pp. 16. Date of Electronic Publication: 2024 Mar 12.
Typ publikacji:
Journal Article
MeSH Terms:
Autism Spectrum Disorder*/genetics
Cell Adhesion Molecules, Neuronal*/genetics
Cell Adhesion Molecules, Neuronal*/metabolism
Intellectual Disability*
Membrane Proteins*/genetics
Membrane Proteins*/metabolism
Nerve Tissue Proteins*
Animals ; Mice ; Cell Adhesion Molecules ; Cognition ; Maze Learning ; Social Change
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 36624

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