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1.
Z Kinder Jugendpsychiatr Psychother ; 49(4): 273-283, 2021 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-34240619

RESUMO

Freedom-restricting measures in Bavarian residential facilities for children, adolescents, and young adults with intellectual disabilities Abstract. Objective: In Bavaria, around 10 % of youths with an intellectual disability (ID) live in residential facilities. In 2015, media raised accusations of inadmissible use of coercive measures. The REDUGIA project carried out a representative survey in Bavarian facilities regarding coercive measures (FeM), challenging behavior (hfV), and employee stress (MaB). Method: We sent a questionnaire concerning structural conditions, MaB, hfV and FeM to 65 Bavarian facilities for young people with ID. In addition to preparing descriptive evaluations, we performed correlative and regression analyses concerning the relationship between hfV, FeM, and MaB. Results: We retrieved data from 1,839 subjects in 61 facilities. 84.3 % of facilities reported low rates of hfV and FeM, while 15.7 % reported an increased incidence of hfV and FeM. For n = 1809 full-time position equivalents there were 639 physical attacks by residents over the course of 14 days. We observed 85 instances of sick leave and 33 transfer apllications/resignation associated with hfV. The frequency of hfV predicted the frequency of FeM (R² = 0.307, F = 21.719, p < .001). MaB correlated positively with hfV (r = 0.507, p < .001). Conclusions: The descriptive data indicate that hfV and FeM are not general phenomena but occur mainly in a circumscript number of highly specialized facilities. This emphasizes the need for prevention of hfV and FeM.


Assuntos
Deficiência Intelectual , Adolescente , Criança , Liberdade , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Instituições Residenciais , Inquéritos e Questionários , Adulto Jovem
2.
Medicine (Baltimore) ; 100(23): e26093, 2021 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-34114993

RESUMO

RATIONALE: Mutations of connector enhancer of kinase suppressor of Ras-2 (CNKSR2) gene were identified as the cause of Houge type of X-linked syndromic mental retardation. The mutations of CNKSR2 gene are rare, we reporta patient carrying a novel nonsense mutation of CNKSR2,c.625C > T(p.Gln209∗) and review the clinical features and mutations of CNKSR2 gene for this rare condition considering previous literature. PATIENT CONCERNS: We report a case of a 7-year and 5-month-old Chinese patient with clinical symptoms of intellectual disability, language defect, epilepsy and hyperactivity. Genetic study revealed a novel nonsense variant of CNKSR2, which has not been reported yet. DIAGNOSIS: According to clinical manifestations, genetic pattern and ACMG classification of mutation site as Class 1-cause disease, the patient was diagnosed as Houge type of X-linked syndromic mental retardation caused by CNKSR2 gene mutation. INTERVENTIONS: The patient was administrated with a gradual titration of valproic acid (VPA). OUTCOMES: On administration of valproic acid, he had no further seizures. LESSONS: This is the first time to report a nonsense variant in CNKSR2, c.625C > T(p.Gln209∗), this finding could expand the spectrum of CNKSR2 mutations and might also support the further study of Houge type of X-linked syndromic mental retardation.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Epilepsia , Deficiência Intelectual , Transtornos da Linguagem , Retardo Mental Ligado ao Cromossomo X , Agitação Psicomotora , Ácido Valproico/administração & dosagem , Anticonvulsivantes/administração & dosagem , Criança , Códon sem Sentido , Epilepsia/diagnóstico , Epilepsia/genética , Epilepsia/prevenção & controle , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Transtornos da Linguagem/diagnóstico , Transtornos da Linguagem/genética , Masculino , Retardo Mental Ligado ao Cromossomo X/diagnóstico , Retardo Mental Ligado ao Cromossomo X/tratamento farmacológico , Retardo Mental Ligado ao Cromossomo X/genética , Mutação , Agitação Psicomotora/diagnóstico , Agitação Psicomotora/etiologia , Avaliação de Sintomas , Resultado do Tratamento
3.
Orphanet J Rare Dis ; 16(1): 170, 2021 04 12.
Artigo em Inglês | MEDLINE | ID: mdl-33845862

RESUMO

BACKGROUND: The Treatable ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with global developmental delay and intellectual disability (collectively 'treatable IDs'). Our aim is to update the 2012 review on treatable IDs and App to capture the advances made in the identification of new IMDs along with increased pathophysiological insights catalyzing therapeutic development and implementation. METHODS: Two independent reviewers queried PubMed, OMIM and Orphanet databases to reassess all previously included disorders and therapies and to identify all reports on Treatable IDs published between 2012 and 2021. These were included if listed in the International Classification of IMDs (ICIMD) and presenting with ID as a major feature, and if published evidence for a therapeutic intervention improving ID primary and/or secondary outcomes is available. Data on clinical symptoms, diagnostic testing, treatment strategies, effects on outcomes, and evidence levels were extracted and evaluated by the reviewers and external experts. The generated knowledge was translated into a diagnostic algorithm and updated version of the App with novel features. RESULTS: Our review identified 116 treatable IDs (139 genes), of which 44 newly identified, belonging to 17 ICIMD categories. The most frequent therapeutic interventions were nutritional, pharmacological and vitamin and trace element supplementation. Evidence level varied from 1 to 3 (trials, cohort studies, case-control studies) for 19% and 4-5 (case-report, expert opinion) for 81% of treatments. Reported effects included improvement of clinical deterioration in 62%, neurological manifestations in 47% and development in 37%. CONCLUSION: The number of treatable IDs identified by our literature review increased by more than one-third in eight years. Although there has been much attention to gene-based and enzyme replacement therapy, the majority of effective treatments are nutritional, which are relatively affordable, widely available and (often) surprisingly effective. We present a diagnostic algorithm (adjustable to local resources and expertise) and the updated App to facilitate a swift and accurate workup, prioritizing treatable IDs. Our digital tool is freely available as Native and Web App (www.treatable-id.org) with several novel features. Our Treatable ID endeavor contributes to the Treatabolome and International Rare Diseases Research Consortium goals, enabling clinicians to deliver rapid evidence-based interventions to our rare disease patients.


Assuntos
Deficiência Intelectual , Doenças Metabólicas , Erros Inatos do Metabolismo , Aplicativos Móveis , Humanos , Deficiência Intelectual/diagnóstico , Doenças Raras
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(3): 228-231, 2021 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-33751530

RESUMO

OBJECTIVE: To assess the value of copy number variations (CNVs) and chromosomal karyotyping analysis for patients with intellectual disability/developmental delay (ID/DD). METHODS: Chromosomal karyotype analysis was applied to 530 children diagnosed with ID/DD. Single nucleotide polymorphism array (SNP-array) was further applied for 120 children with unknown etiology. RESULTS: Among the 530 children with ID/DD, 104 (19.62%) were detected with chromosomal abnormalities. For the 120 children analyzed by SNP-array, 44 (36.67%) were detected with CNVs, among which 20 were predicted as pathogenic, 6 as likely pathogenic, 10 as variants of unknown significance, 7 as likely benign,and 1 as loss of heterozygosity. CONCLUSION: SNP-array can facilitate delineation of the etiology of patients with ID/DD, which may provide a basis for their prognosis, consultation and clinical intervention.


Assuntos
Variações do Número de Cópias de DNA , Deficiências do Desenvolvimento , Deficiência Intelectual , Criança , Aberrações Cromossômicas , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Cariotipagem
6.
Acta Neurol Scand ; 144(1): 29-40, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33748956

RESUMO

OBJECTIVES: Little is known about the evolution of epilepsy in individuals with tuberous sclerosis complex (TSC) in adulthood. This study aims at describing the characteristics of epilepsy in adult TSC patients attending a single multidisciplinary clinic. MATERIALS AND METHODS: We collected data about epilepsy (age at onset, seizure types, history of infantile spasms (IS), epilepsy diagnosis and outcome), genetic and neuroradiological findings, cognitive outcome and psychiatric comorbidities. RESULTS: Out of 257 adults with TSC, 183 (71.2%) had epilepsy: 121 (67.2%) were drug-resistant; 59 (32.8%) seizure-free, at a median age of 18 years. 22% of the seizure-free patients (13/59) discontinued medication. Median age at seizure onset was 9 months. Seventy-six patients (41.5%) had a history of IS. TSC2 pathogenic variants (p = 0.018), cortical tubers (p < 0.001) and subependymal nodules (SENs) (p < 0.001) were more frequent in those who developed epilepsy. Cognitive functioning was lower (p < 0.001) and psychiatric disorders more frequent (p = 0.001). We did not find significant differences regarding age, gender, mutation and tubers/SENs in seizure-free vs drug-resistant individuals. Intellectual disability (p < 0.001) and psychiatric disorders (p = 0.004) were more common among drug-resistant patients. CONCLUSIONS: Epilepsy in TSC can be a lifelong disorder, but one-third of individuals reach seizure freedom by early adulthood. In the long term, age at epilepsy onset has a crucial role in drug resistance and in developing intellectual disability, both in drug-resistant and drug-sensible patients. Patients with drug-refractory seizures tend to develop psychiatric issues, which should be recognized and adequately treated.


Assuntos
Epilepsia Resistente a Medicamentos/diagnóstico , Epilepsia Resistente a Medicamentos/epidemiologia , Espasmos Infantis/diagnóstico , Espasmos Infantis/epidemiologia , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Epilepsia Resistente a Medicamentos/psicologia , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Epilepsia/psicologia , Seguimentos , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/psicologia , Masculino , Estudos Retrospectivos , Espasmos Infantis/psicologia , Esclerose Tuberosa/psicologia
7.
Medicine (Baltimore) ; 100(13): e25407, 2021 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-33787650

RESUMO

ABSTRACT: The Griffiths Mental Development Scale-Chinese (GDS-C) is used in China to assess the development of children from birth to 8 years of age. Language disorders are a common symptom of autism spectrum disorder (ASD) and global developmental delay (GDD)/intellectual disability (ID). There is a need to identify distinct clinical characteristics in children suspected of having these 2 disorders, mainly presenting as language disorders. Here, we aimed to use the GDS-C to evaluate children presenting with language problems to identify characteristics that distinguish ASD and GDD/ID. Children with language problems were recruited between August 2018 and December 2019. A total of 150 children aged 25 to 95.2 months were enrolled (50 in the ASD group, 50 in the GDD/ID group, and 50 in the typical group). Each group was subdivided by age as follows: 24-36 months, >36-60 months, and >60-96 months. Developmental characteristics assessed using the GDS-C were analyzed and compared. Both, children with ASD and GDD/ID presented with a lower developmental level than typical children in all six subscales of the GDS-C. No significant differences were observed in the six subscale scores between the ASD and GDD/ID groups, except for the practical reasoning subscale score in the >36 to 60 months subgroups, which was significantly lower in the GDD/ID group than in the ASD group. The developmental imbalance of subscales within the ASD and GDD/ID groups identified troughs in the personal-social, language, and practical reasoning areas in children with ASD and in the language and practical reasoning areas in children with GDD/ID relative to typical children. The GDS-C is a useful, comprehensive tool for the assessment of the developmental state of children with ASD and GDD/ID. Characteristics of practical reasoning subscale help diagnose autism in >36 to 60 months old children.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Deficiência Intelectual/diagnóstico , Transtornos da Linguagem/diagnóstico , Testes Neuropsicológicos , Transtorno do Espectro Autista/complicações , Criança , Desenvolvimento Infantil , Pré-Escolar , China , Deficiências do Desenvolvimento/complicações , Diagnóstico Diferencial , Estudos de Viabilidade , Feminino , Humanos , Deficiência Intelectual/complicações , Transtornos da Linguagem/etiologia , Masculino , Traduções
9.
Hum Genet ; 140(6): 945-955, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33709208

RESUMO

Telomere biology disorders are complex clinical conditions that arise due to mutations in genes required for telomere maintenance. Telomere length has been utilised as part of the diagnostic work-up of patients with these diseases; here, we have tested the utility of high-throughput STELA (HT-STELA) for this purpose. HT-STELA was applied to a cohort of unaffected individuals (n = 171) and a retrospective cohort of mutation carriers (n = 172). HT-STELA displayed a low measurement error with inter- and intra-assay coefficient of variance of 2.3% and 1.8%, respectively. Whilst telomere length in unaffected individuals declined as a function of age, telomere length in mutation carriers appeared to increase due to a preponderance of shorter telomeres detected in younger individuals (< 20 years of age). These individuals were more severely affected, and age-adjusted telomere length differentials could be used to stratify the cohort for overall survival (Hazard Ratio = 5.6 (1.5-20.5); p < 0.0001). Telomere lengths of asymptomatic mutation carriers were shorter than controls (p < 0.0001), but longer than symptomatic mutation carriers (p < 0.0001) and telomere length heterogeneity was dependent on the diagnosis and mutational status. Our data show that the ability of HT-STELA to detect short telomere lengths, that are not readily detected with other methods, means it can provide powerful diagnostic discrimination and prognostic information. The rapid format, with a low measurement error, demonstrates that HT-STELA is a new high-quality laboratory test for the clinical diagnosis of an underlying telomeropathy.


Assuntos
Transtornos da Insuficiência da Medula Óssea/diagnóstico , Disceratose Congênita/diagnóstico , Retardo do Crescimento Fetal/diagnóstico , Triagem de Portadores Genéticos/métodos , Deficiência Intelectual/diagnóstico , Microcefalia/diagnóstico , Telômero/patologia , Adolescente , Adulto , Fatores Etários , Idoso , Doenças Assintomáticas , Transtornos da Insuficiência da Medula Óssea/genética , Transtornos da Insuficiência da Medula Óssea/patologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Disceratose Congênita/genética , Disceratose Congênita/patologia , Feminino , Retardo do Crescimento Fetal/genética , Retardo do Crescimento Fetal/patologia , Heterozigoto , Humanos , Lactente , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Masculino , Microcefalia/genética , Microcefalia/patologia , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Análise de Sobrevida , Telômero/metabolismo , Homeostase do Telômero
10.
Artigo em Inglês | MEDLINE | ID: mdl-33670742

RESUMO

Oppositional defiant disorder (ODD) is one of the most frequently diagnosed disorders in children with intellectual disabilities (ID). However, the high variability of results in prevalence studies suggests problems that should be investigated further, such as the possible overlap between some ODD symptoms and challenging behaviors that are especially prevalent in children with ID. The study aimed to investigate whether there are differences in the functioning of ODD symptoms between children with (n = 189) and without (n = 474) intellectual disabilities. To do so, we analyzed the extent to which parental ratings on DSM-5 ODD symptoms were metrically invariant between groups using models based on item response theory. The results indicated that two symptoms were non-invariant, with degrees of bias ranging from moderately high ("annoys others on purpose") to moderately low ("argues with adults"). Caution is advised in the use of these symptoms for the assessment and diagnosis of ODD in children with ID. Once the bias was controlled, the measurement model suggested prevalences of 8.4% (children with ID) and 3% (typically developing children). Theoretical and practical implications are discussed.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Deficiência Intelectual , Adulto , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/diagnóstico , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/epidemiologia , Criança , Estudos Transversais , Manual Diagnóstico e Estatístico de Transtornos Mentais , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Prevalência
12.
Genet Med ; 23(5): 872-880, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33564151

RESUMO

PURPOSE: To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care. METHODS: Thirty-two individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments. RESULTS: Medical manifestations were varied and reported across nearly every organ system. The most severe manifestations were congenital heart defects (25%) and the most common were gastrointestinal symptoms (81%). Physical examination revealed a high proportion of musculoskeletal findings (81%). Neurodevelopmental phenotypes represent a significant burden and include intellectual disability (34%), autism spectrum disorder (38%), executive function deficits (46%), and graphomotor weakness (78%). Psychiatric illness manifests across the lifespan with psychosis prodrome (15%), psychosis (20%), anxiety disorders (40%), and attention deficit-hyperactivity disorder (ADHD) (63%). Neuroimaging revealed structural anomalies of the posterior fossa, but on neurological exam study subjects displayed only mild or moderate motor vulnerabilities. CONCLUSION: By direct evaluation of 3q29 deletion study subjects, we document common features of the syndrome, including a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and management are provided to help guide clinicians in the care of 3q29 deletion patients.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Transtornos Psicóticos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Criança , Deleção Cromossômica , Deficiências do Desenvolvimento/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética
13.
Intellect Dev Disabil ; 59(1): 1-6, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33543272

RESUMO

The last three issues of Intellectual and Developmental Disabilities (IDD) have featured perspectives from a diverse set of contributors on how the field of intellectual and developmental disabilities (IDD) is being impacted by COVID-19. As four newly appointed faculty members with diverse backgrounds, the editor of IDD invited us to share our experiences with beginning academic careers during this unique time. In making this request, he pointed out that approximately half the members of the American Association on Intellectual and Developmental Disabilities (AAIDD) are those who have some type of affiliation with an institution of higher education. While the perspectives outlined in this article do not represent those of all early career faculty, we hope our stories resonate with IDD readers who may be facing similar circumstances. This article includes a series of brief essays addressing how the pandemic has affected our academic job searches, research, teaching, and service. Although penned by different authors, each section encompasses our collective experiences, concerns, and hopes for the broader IDD community. We close with guiding questions that might support more socially responsive and integrated approaches to traditional academic roles as faculty continue to navigate the repercussions of COVID-19.


Assuntos
COVID-19/epidemiologia , Deficiência Intelectual , Mobilidade Ocupacional , Docentes de Medicina/estatística & dados numéricos , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Ensino
14.
Am J Physiol Heart Circ Physiol ; 320(2): H891-H900, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33566748

RESUMO

People with intellectual disability (ID) experience cardiometabolic-related morbidity and mortality. However, it has been suggested that this population presents and lives with underestimated cardiovascular risk factors at a younger age, hence affecting their overall health and quality of life and contributing to early mortality. We assessed autonomic nervous system function in subjects with ID (n = 39), aged 18-45 yr, through measures of sudomotor function, heart rate and systolic blood pressure variability, and cardiac baroreflex function. Traditional clinical cardiovascular measurements and a biochemical analysis were also undertaken. We found that young adults with ID presented with sudomotor dysfunction, impaired cardiac baroreflex sensitivity, and systolic blood pressure variability, when compared with age-matched control subjects (n = 38). Reduced hand and feet electrochemical skin conductance and asymmetry were significantly associated with having a moderate-profound ID. Autonomic dysfunction in individuals with ID persisted after controlling for age, sex, and other metabolic parameters. Subjects in the ID group also showed significantly increased blood pressure, body mass index, and waist/hip circumference ratio, as well as increased plasma hemoglobin A1c and high-sensitivity C-reactive protein levels. We conclude that autonomic dysfunction is present in young adults with ID and is more marked in those with more severe disability. These finding have important implications in developing preventative strategies to reduce the risk of cardiovascular disease in people with ID.NEW & NOTEWORTHY Adults with intellectual disability experience higher risk of premature death than the general population. Our investigation highlights increased cardiovascular risk markers and autonomic dysfunction in young adults with intellectual disability compared with control adults. Autonomic dysfunction was more marked in those with a more severe disability but independent of cardiovascular parameters. Assessment of autonomic nervous system (ANS) function may provide insight into the mechanisms of cardiometabolic disease development and progression in young adults with intellectual disability.


Assuntos
Doenças do Sistema Nervoso Autônomo/etiologia , Sistema Nervoso Autônomo/fisiopatologia , Doenças Cardiovasculares/etiologia , Sistema Cardiovascular/inervação , Deficiência Intelectual/complicações , Pessoas com Deficiência Mental , Glândulas Sudoríparas/inervação , Adolescente , Adulto , Fatores Etários , Doenças do Sistema Nervoso Autônomo/diagnóstico , Doenças do Sistema Nervoso Autônomo/fisiopatologia , Barorreflexo , Pressão Sanguínea , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/fisiopatologia , Estudos de Casos e Controles , Estudos Transversais , Feminino , Fatores de Risco de Doenças Cardíacas , Frequência Cardíaca , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Pessoa de Meia-Idade , Medição de Risco , Índice de Gravidade de Doença , Sudorese , Adulto Jovem
15.
Medicine (Baltimore) ; 100(1): e24224, 2021 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-33429816

RESUMO

RATIONALE: Chromosomal 3q deletion is a recurrent genomic alternation, which is rarely reported in clinic. PATIENT CONCERNS: A 27-year-old woman underwent amniocentesis for cytogenetic analysis and single nucleotide polymorphism (SNP) array analysis at 27 weeks of gestation, due to ventricular septum defect in prenatal ultrasound findings. DIAGNOSES: G-banding analysis showed the karyotype of the fetus was normal and the couple also had normal karyotypes. However, SNP array detected a 1.71 Mb microdelection in 3q29, which was described as arr[hg19]3q29(194184392-195887205) × 1. There are 12 genes located in this locus. INTERVENTIONS: The couple refused SNP array to testify the 3q29 microdeletion was inherited or de novo and they chose termination of pregnancy. OUTCOMES: The deleted region in the fetus overlapped with part 3q29 microdeletion syndrome, which was characterized by learning disability, speech delay, mental deficiency, ocular abnormalities and craniofacial features. In addition, no similar/overlapping 3q29 microdeletion cases were reported according to the published literature and database. LESSONS: For the chromosomal microscopic imbalances partially overlapping with the defined pathogenic syndrome, deleted/duplicated size, genetic materials and phenotypic diversity should be taken into consideration when genetic counseling is offered by the clinicians.


Assuntos
Comunicação Interventricular/diagnóstico por imagem , Deficiência Intelectual/diagnóstico , Ultrassonografia Pré-Natal , Adulto , Amniocentese , Deleção Cromossômica , Cromossomos Humanos Par 3/genética , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Diagnóstico Diferencial , Feminino , Aconselhamento Genético , Cardiopatias Congênitas , Comunicação Interventricular/genética , Humanos , Deficiência Intelectual/genética , Gravidez , Segundo Trimestre da Gravidez
16.
Fortschr Neurol Psychiatr ; 89(7-08): 354-362, 2021 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-33418590

RESUMO

This study evaluates the usefulness of a modified version of "AMDP Interview Guidance", the established German instrument in simple language for psychopathological examination. A total of 19 patients with intellectual disabilities underwent psychopathological examination with the help of the original version of the AMDP interview guidance, a modified version and a free, non-standardised and the three versions were assessed. With the original version of the AMDP interview guidance, 50% of the patients with intellectual disabilities were able to answer in a proper way and delivered an appropriate result for the psychopathological assessment. Of the remaining patients 85-90% could handle the questions of the modified version with success. The modified version of the AMDP interview guidance in simple language seems to contribute to a better psychopathological examination compared with the original version. Further studies with a statistically appropriate number of patients need to be carried out in the future.


Assuntos
Deficiência Intelectual , Humanos , Deficiência Intelectual/diagnóstico , Idioma , Compostos Organofosforados , Compostos Organoplatínicos , Escalas de Graduação Psiquiátrica , Psicopatologia
17.
Mol Biol Rep ; 48(1): 701-708, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33393008

RESUMO

Elongator is a multi-subunit protein complex bearing six different protein subunits, Elp1 to -6, that are highly conserved among eukaryotes. Elp2 is the second major subunit of Elongator and, together with Elp1 and Elp3, form the catalytic core of this essential complex. Pathogenic variants that affect the structure and function of the Elongator complex may cause neurodevelopmental disorders. Here, we report on a new family with three children affected with a severe form of intellectual disability along with spastic tetraparesis, choreoathetosis, and self injury. Molecular genetic analyses reveal a homozygous missense variant in the ELP2 gene (NM_018255.4 (ELP2): c.1385G > A (p.Arg462Gln)), while in silico studies suggest a loss of electrostatic interactions that may contribute to the overall stability of the encoded protein. We also include a comparison of the patients with ELP2-related neurodevelopmental disorder to those previously reported in the literature. Apart from being affected with intellectual disability, we have extremely limited clinical knowledge about patients harboring ELP2 variants. Besides providing support to the causal role of p.Arg462Gln in ELP2-related neurodevelopmental disorder, we add self-injurious behavior to the clinical phenotypic repertoire of the disease.


Assuntos
Deficiência Intelectual/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Síndrome de Lesch-Nyhan/genética , Paresia/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Sequência de Aminoácidos , Consanguinidade , Família , Feminino , Expressão Gênica , Homozigoto , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/metabolismo , Deficiência Intelectual/patologia , Peptídeos e Proteínas de Sinalização Intracelular/química , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Síndrome de Lesch-Nyhan/diagnóstico , Síndrome de Lesch-Nyhan/metabolismo , Síndrome de Lesch-Nyhan/patologia , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Paresia/diagnóstico , Paresia/metabolismo , Paresia/patologia , Linhagem , Ligação Proteica , Conformação Proteica em alfa-Hélice , Conformação Proteica em Folha beta , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos , Eletricidade Estática , Turquia , Sequenciamento Completo do Exoma , Adulto Jovem
18.
Pediatrics ; 147(2)2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33408069

RESUMO

BACKGROUND AND OBJECTIVES: Pica, the repeated ingestion of nonfood items, can be life-threatening. Although case reports describe pica in children with autism spectrum disorder (ASD) or intellectual disability (ID), there has been little systematic study of pica prevalence. We assessed pica in children 30 to 68 months of age (median = 55.4 months) with and without ASD. METHODS: Our sample from the Study to Explore Early Development, a multisite case-control study, included children with ASD (n = 1426), children with other developmental disabilities (DDs) (n = 1735), and general population-based controls (POPs) (n = 1578). We subdivided the ASD group according to whether children had ID and the DD group according to whether they had ID and/or some ASD characteristics. Standardized developmental assessments and/or questionnaires were used to define final study groups, subgroups, and pica. We examined pica prevalence in each group and compared ASD and DD groups and subgroups to the POP group using prevalence ratios adjusted for sociodemographic factors. RESULTS: Compared with the prevalence of pica among POPs (3.5%), pica was higher in children with ASD (23.2%) and DD (8.4%), and in the following subgroups: ASD with ID (28.1%), ASD without ID (14.0%), DD with ID (9.7%), DD with ASD characteristics (12.0%), and DD with both ID and ASD characteristics (26.3%); however, pica prevalence was not elevated in children with DD with neither ID nor ASD characteristics (3.2%). Between-group differences remained after adjustment (adjusted prevalence ratio range 1.9-8.0, all P <.05). CONCLUSIONS: Pica may be common in young children with ASD, ASD characteristics, and ID. These findings inform the specialized health care needs of these children.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Pica/diagnóstico , Pica/epidemiologia , Adulto , Transtorno do Espectro Autista/psicologia , Estudos de Casos e Controles , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/psicologia , Feminino , Humanos , Deficiência Intelectual/psicologia , Masculino , Pica/psicologia , Adulto Jovem
20.
Pediatr Dermatol ; 38(2): 533-535, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33464633

RESUMO

Xia Gibbs syndrome is a genetic disorder first defined in 2014 characterized by hypotonia, intellectual disability, global developmental delay, and dysmorphic facial features. While many additional features may be present, there are few reports of dermatologic findings. We report a case of atypical aplasia cutis in a female infant who was found to have Xia Gibbs syndrome. This case highlights consideration of cutaneous manifestations of Xia Gibbs syndrome which may aid in diagnosis.


Assuntos
Anormalidades Múltiplas , Displasia Ectodérmica , Deficiência Intelectual , Anormalidades Musculoesqueléticas , Anormalidades Múltiplas/diagnóstico , Displasia Ectodérmica/complicações , Displasia Ectodérmica/diagnóstico , Feminino , Humanos , Lactente , Deficiência Intelectual/diagnóstico
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