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1.
Medicine (Baltimore) ; 99(16): e19813, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32311999

RESUMO

RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-ptosis-epicanthus inversus syndrome at first. We found a de novo frameshift mutation (p.Glu390Lysfs*10) in the KMT2A gene, which was not reported before. Our study increases the cohort of Chinese WDSTS patients, and expand the WDSTS phenotypic and variation spectrum. PATIENT CONCERNS: The patient demonstrated typical craniofacial features of blepharophimosis-ptosis-epicanthus inversus syndrome, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus, besides he had congenital heart disease (ventricular septal defects), strabismus, hypotonia, amblyopia, delayed speech and language development, delayed psychomotor development, and amblyopia (HP:0000646) which was not reported before. DIAGNOSIS: FOXL2 gene was cloned and sequenced, however, there was no mutation detected in this patient. The result of Chromosomal microarray analysis was normal. The patient was diagnosed as WDSTS by whole exome sequencing. INTERVENTIONS: The patient received cardiac surgery, frontalis suspension and regular speech and occupational therapy. He also treated with growth hormone (GH). OUTCOMES: The patient's symptoms are improved after cardiac surgery and frontalis suspension, he can express himself well now and had a 10 cm gain in height. LESSONS: As the relationship between genotype and phenotype becomes more and more clear, WES is incredibly powerful tool to diagnose the disease of WDSTS.


Assuntos
Anormalidades Múltiplas/genética , Blefarofimose/diagnóstico , Contratura/genética , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Cardiopatias Congênitas/diagnóstico , Histona-Lisina N-Metiltransferase/genética , Hipertricose/congênito , Deficiência Intelectual/genética , Microcefalia/genética , Proteína de Leucina Linfoide-Mieloide/genética , Anormalidades da Pele/diagnóstico , Anormalidades Urogenitais/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/terapia , Grupo com Ancestrais do Continente Asiático/genética , Criança , Contratura/diagnóstico , Contratura/terapia , Erros de Diagnóstico , Facies , Genótipo , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/terapia , Hormônio do Crescimento/uso terapêutico , Cardiopatias Congênitas/cirurgia , Humanos , Hipertricose/diagnóstico , Hipertricose/etiologia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Masculino , Microcefalia/diagnóstico , Microcefalia/terapia , Mutação , Fenótipo , Resultado do Tratamento , Sequenciamento Completo do Exoma/métodos
2.
Medicine (Baltimore) ; 99(15): e19751, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32282736

RESUMO

RATIONALE: This case report expands the mutation and phenotypic spectra of Beaulieu-Boycott-Innes syndrome (BBIS), and will be valuable for mutation-based pre- and post-natal screening of BBIS when conducting a genetic diagnosis. PATIENT CONCERNS: A 4-year old boy from Guilin City, Guangxi Zhuang Autonomous Region, China, was referred to our clinic for clarification of his diagnosis because he showed moderate intellectual disability. DIAGNOSIS: Two novel compound heterozygous mutations of THOC6, c.664T>C (p.Trp222Arg) and c.945+1 G>A were identified in this patient by whole exome sequencing. The two mutations were evaluated as pathogenic and likely pathogenic respectively according to the American College of Medical Genetics guidelines. This is the first case displaying the BBIS phenotype reported in the Chinese population. These two mutations have not been reported previously. INTERVENTIONS: Symptomatic treatment and rehabilitation training for patients. OUTCOMES: The genetic cause of the disease was identified. The family received scientific genetic counseling. LESSONS: BBIS is a rare syndromic autosomal recessive disease with intellectual disability and it is normally difficult for clinicians to recognize it. Whole exome sequencing is an efficient way to identify the gene which causes a particular disease in patients.


Assuntos
Anormalidades Múltiplas/genética , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Atrofia Muscular/genética , Proteínas de Ligação a RNA/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/reabilitação , Anormalidades Múltiplas/terapia , Grupo com Ancestrais do Continente Asiático/genética , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/reabilitação , Deficiências do Desenvolvimento/terapia , Facies , Aconselhamento Genético/normas , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/reabilitação , Deficiência Intelectual/terapia , Masculino , Atrofia Muscular/diagnóstico , Atrofia Muscular/reabilitação , Atrofia Muscular/terapia , Mutação/genética , Fenótipo , Síndrome , Sequenciamento Completo do Exoma/métodos
3.
Rev Med Suisse ; 16(681): 310-313, 2020 Feb 12.
Artigo em Francês | MEDLINE | ID: mdl-32049452

RESUMO

For the purpose of improving the management of somatic disorders among patients suffering from severe intellectual development and autism spectrum disorders, a specific admissions mechanism has been implemented at Geneva University Hospitals (HUG). The Adult Psychiatric Hospital Unit (UPHA), a complex intervention unit, collaborates with HUG's Disability Program. From May 2018 to May 2019, 29 requests for hospitalizations were accepted. These requests primarily originated from private practice physicians (42 %). In some cases, immediate admissions were urgently organized, and in others a 13-day waiting period was imposed. Hospitalizations were adapted to the patient: more often than not, these were short (48 %), with 6 hospitalizations extended for an average 103-day period. A clinical case illustrates the healthcare management provided.


Assuntos
Transtorno do Espectro Autista/psicologia , Transtorno do Espectro Autista/terapia , Deficiência Intelectual/psicologia , Deficiência Intelectual/terapia , Adulto , Pessoas com Deficiência/psicologia , Hospitalização , Humanos , Suíça
4.
Zhongguo Zhen Jiu ; 39(12): 1332-4, 2019 Dec 12.
Artigo em Chinês | MEDLINE | ID: mdl-31820610

RESUMO

Professor LI Ying-kun's experiences in treatment of intellectual disability with acupuncture at "yizhi touxue line" is summarized. In the pathogenesis of intellectual disability, the insufficiency of essential qi and the malnutrition of the prenatal essence and the postnatal essence result in the insufficiency of qi of five zang organs. Persistent sickness consumes qi and injures blood. The insufficiency of qi and blood causes the dysfunction of transportation and transformation. Hence, phlegm is produced and mixed with stasis. This disease is localized in the brain and closely related to heart, kidney, spleen and stomach. The "yizhi touxue line" was created on the base of the theory of qi street and the international standard of scalp acupuncture. The satisfactory effect has been achieved in the children with intellectual disability treated by this therapeutic method. In clinical treatment, the syndrome differentiation of the disease should be integrated with the symptoms.


Assuntos
Terapia por Acupuntura , Medicamentos de Ervas Chinesas , Deficiência Intelectual , Pontos de Acupuntura , Criança , Feminino , Humanos , Deficiência Intelectual/terapia , Gravidez
5.
New Dir Child Adolesc Dev ; 2019(167): 117-131, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31507034

RESUMO

This study provides an illustration of a research design complementary to randomized controlled trial to evaluate program effects, namely, participatory peer research (PPR). The PPR described in current study was carried out in a small sample (N = 10) of young adults with mild intellectual disabilities (MID) and severe behavioral problems. During the PPR intervention, control and feedback to individuals is restored by training them to become participant-researchers, who collaborate in a small group of people with MID. Their research is aimed at the problems the young adults perceive and/or specific subjects of their interest. The study was designed as a multiple case study with an experimental and comparison group. Questionnaires and a semistructured interview were administered before and after the PPR project. Results of Reliable Change Index (RCI) analyses showed a decrease in self-serving cognitive distortions in the PPR group, but not in the comparison group. These results indicate that PPR helps to compensate for a lack of adequate feedback and control, and in turn may decrease distorted thinking and thereby possibly later challenging behavior.


Assuntos
Sintomas Comportamentais/terapia , Pesquisa Participativa Baseada na Comunidade , Deficiência Intelectual/terapia , Controle Interno-Externo , Participação do Paciente , Projetos de Pesquisa , Autoimagem , Adulto , Sintomas Comportamentais/etiologia , Humanos , Deficiência Intelectual/complicações , Masculino , Grupo Associado , Instituições Residenciais , Índice de Gravidade de Doença , Resultado do Tratamento , Adulto Jovem
6.
BMC Health Serv Res ; 19(1): 587, 2019 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-31429734

RESUMO

BACKGROUND: Despite a growing number of adolescents and adults diagnosed with autism spectrum disorder (ASD), little is known about service needs and barriers to services in this population. Existing research shows that youth with ASD are more underserved as they approach final years of their high school education and that adequate services for individuals with ASD after transition to adulthood are even scarcer. However, few studies have directly compared differences in service availability between adolescents and adults with ASD, and even fewer studies are published on service use outside Anglo-Saxon countries. The purpose of the present study was to examine service access, perceived barriers, and unmet needs, as reported by parents of adolescents and young adults with ASD in Poland. METHODS: The study used a subsample of parents of young people with ASD (aged 12-38 years; N = 311) from the Polish Autism Survey - a survey covering different areas of functioning of people with ASD in Poland, based on a convenience sample. Responding parents were recruited via different service providers, social media, and press, and completed a survey using a web platform or a paper-and-pencil questionnaire. RESULTS: As expected, adults used services less often than adolescents, with 80.1% of adolescents and 61.1% of adults with ASD using services in the previous 12 months. Mental health services were among the most used and the most needed services, followed by educational services, while needs for sensory/motor services remained largely unmet. Young people with a coexisting intellectual disability used more services than those without it. Non-governmental organizations, private clinics, and schools were the most common service providers. Parents indicated that most of young people with ASD had unmet service needs for services (93.5%) and faced barriers to access them (82.7%). Low-income families and those living outside large cities were at the highest risk of facing barriers to service access. CONCLUSIONS: The results confirm still a thin body of evidence from different countries suggesting that adolescents and adults with ASD were both largely underserved populations. Policy-makers should address economic, regional, and age-related inequities in access to services for individuals with ASD.


Assuntos
Transtorno do Espectro Autista/terapia , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Serviços de Saúde Mental/normas , Adolescente , Adulto , Criança , Assistência à Saúde/normas , Assistência à Saúde/estatística & dados numéricos , Feminino , Humanos , Deficiência Intelectual/terapia , Masculino , Área Carente de Assistência Médica , Serviços de Saúde Mental/provisão & distribução , Pais/psicologia , Polônia , Pobreza/estatística & dados numéricos , Inquéritos e Questionários , Adulto Jovem
7.
Med Hypotheses ; 131: 109289, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31443780

RESUMO

Mental retardation is a progressive condition in Down syndrome: intelligence starts to decline linearly within the first year. This phenomenon could be related to the overproduction of a toxic compound, hydrogen sulfide. Indeed, a gene located on chromosome 21 controls the production of cystathionine-ß-synthase, an enzyme involved in hydrogen sulfide production in the central nervous system. It has recently been demonstrated that excess cystathionine-ß-synthase levels are needed and sufficient to induce cognitive phenotypes in mouse models of Down syndrome. Thus, two therapeutic options might be used in Down syndrome patients: the use of a specific cystathionine ß-synthase inhibitor and the use of an effective antidote to reduce hydrogen sulfide toxicity. Prenatal treatment of Down syndrome fetuses is also suggested.


Assuntos
Cistationina beta-Sintase/fisiologia , Síndrome de Down/psicologia , Sulfeto de Hidrogênio/antagonistas & inibidores , Deficiência Intelectual/terapia , Ácido Amino-Oxiacético/uso terapêutico , Animais , Benserazida/uso terapêutico , Encéfalo/metabolismo , Cromossomos Humanos Par 21/genética , Cobamidas/uso terapêutico , Cistationina beta-Sintase/antagonistas & inibidores , Cistationina beta-Sintase/genética , Modelos Animais de Doenças , Progressão da Doença , Dissulfiram/uso terapêutico , Síndrome de Down/genética , Inibidores Enzimáticos/uso terapêutico , Dosagem de Genes , Humanos , Sulfeto de Hidrogênio/metabolismo , Recém-Nascido , Deficiência Intelectual/tratamento farmacológico , Deficiência Intelectual/genética , Camundongos , Mitocôndrias/metabolismo , Ratos , Nitrito de Sódio/uso terapêutico , Especificidade da Espécie , Tiossulfatos/metabolismo
8.
Psicothema (Oviedo) ; 31(3): 223-228, ago. 2019. tab
Artigo em Inglês | IBECS | ID: ibc-185347

RESUMO

Background: The field of intellectual and developmental disabilities (IDD) is currently experiencing a significant transformation that encompasses an integrated approach, especially regarding shared aspects such as a focus on the human and legal rights, the eligibility for services and supports, and an emphasis on individualized supports provided within inclusive community-based environments. Accompanying this transformation is the increased need of precision in both the operational definitions of IDD-related constructs, and the terminology used to describe the respective construct. Method: the specialized literature was revised, and previous works on the subject by the authors were updated. Results: This article provides psychologists with the current definition of intellectual disability, operational definitions of intellectual disability and developmental disabilities constructs and associated terminology, and the parameters of an integrated approach to disability. Conclusions: Implications for psychologists who are involved in diagnosis, classification, and planning supports for persons with intellectual or developmental disability are discussed


Antecedentes: el campo de la discapacidad intelectual y del desarrollo (DID) experimenta en la actualidad una significativa transformación que implica un enfoque integrado, especialmente en lo que se refiere a aspectos compartidos como el enfoque en los derechos humanos y legales, la elegibilidad para recibir servicios y apoyos, y el énfasis en los apoyos individualizados proporcionados en entornos comunitarios inclusivos. Esta transformación se acompaña de una creciente necesidad de precisión en cuanto las definiciones operativas de los constructos relacionados con la DID y la terminología utilizada para describir cada uno de ellos. Método: se ha revisado la literatura especializada y se han actualizado los trabajos previos de los autores sobre el tema. Resultados: este artículo proporciona a los psicólogos la definición actual de la discapacidad intelectual, las definiciones operativas de los constructos de discapacidad intelectual y discapacidades del desarrollo, así como de la terminología asociada, y los parámetros de un enfoque integrado de la discapacidad. Conclusiones: se discuten las implicaciones para los psicólogos involucrados en el diagnóstico, la clasificación y la planificación de apoyos a personas con discapacidad intelectual o del desarrollo


Assuntos
Humanos , Deficiências do Desenvolvimento , Deficiência Intelectual , Psicologia , Terminologia como Assunto , Adaptação Psicológica , Direitos Civis , Cognição , Prestação Integrada de Cuidados de Saúde , Deficiências do Desenvolvimento/classificação , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/terapia , Pessoas com Deficiência , Deficiência Intelectual/classificação , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/etiologia , Deficiência Intelectual/terapia , Inteligência , Relações Interpessoais , Deficiências da Aprendizagem , Teoria Psicológica , Fatores de Risco , Apoio Social
9.
J Autism Dev Disord ; 49(10): 4244-4255, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31289987

RESUMO

This randomized controlled study evaluated a computer-based intervention on emotion understanding in 32 children with autism spectrum conditions with and without intellectual disability (ID) aged 7-15 years. The intervention group (n = 16) used the program for 12 h while the control group (n = 16) was not included in any intervention or training beside the usual educational curriculum. After controlling for pre-intervention scores and symptom severity, strong positive effects were observed in emotion recognition from real face photographs and pictograms, as well as in understanding situation-based emotion across both intellectual ability groups. The typical and ID intervention groups performed significantly better on all EU measures, compared to controls, at the level of feature based distant generalization.


Assuntos
Transtorno do Espectro Autista/terapia , Inteligência Emocional , Emoções , Deficiência Intelectual/terapia , Psicoterapia/métodos , Adolescente , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/psicologia , Criança , Pré-Escolar , Feminino , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/psicologia , Masculino
10.
Psicothema ; 31(3): 223-228, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31292035

RESUMO

BACKGROUND: The field of intellectual and developmental disabilities (IDD) is currently experiencing a significant transformation that encompasses an integrated approach, especially regarding shared aspects such as a focus on the human and legal rights, the eligibility for services and supports, and an emphasis on individualized supports provided within inclusive community-based environments. Accompanying this transformation is the increased need of precision in both the operational definitions of IDD-related constructs, and the terminology used to describe the respective construct. METHOD: the specialized literature was revised, and previous works on the subject by the authors were updated. RESULTS: This article provides psychologists with the current definition of intellectual disability, operational definitions of intellectual disability and developmental disabilities constructs and associated terminology, and the parameters of an integrated approach to disability. CONCLUSIONS: Implications for psychologists who are involved in diagnosis, classification, and planning supports for persons with intellectual or developmental disability are discussed.


Assuntos
Deficiências do Desenvolvimento , Deficiência Intelectual , Psicologia , Terminologia como Assunto , Adaptação Psicológica , Direitos Civis , Cognição , Prestação Integrada de Cuidados de Saúde , Deficiências do Desenvolvimento/classificação , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/terapia , Pessoas com Deficiência , Humanos , Deficiência Intelectual/classificação , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/etiologia , Deficiência Intelectual/terapia , Inteligência , Relações Interpessoais , Teoria Psicológica , Fatores de Risco , Habilidades Sociais , Apoio Social
11.
Int J Mol Sci ; 20(13)2019 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-31269755

RESUMO

Hoyeraal-Hreidarsson syndrome (HHS), caused by several different germline mutations resulting in severe telomeropathy, presents with early-onset growth anomalies and neurologic/developmental disorders including characteristic cerebellar hypoplasia. Early mortalities may arise from immunodeficiency and bone marrow failure if not successfully salvaged by allogeneic hematopoietic stem cell transplantation (HSCT). Few reports have characterized the persistent somatic progression of HHS after successful HSCT. We present an HHS patient with an X-linked recessive DKC1 c.1058C > T; Ala353Val mutation who successfully underwent unrelated HSCT at 5 years of age. After months of early infections and organ toxicities immediately post-transplant, he had more than two years of excellent quality of life with correction of bone marrow failure and immunodeficiency. However, episodic massive variceal bleeding and progressive respiratory insufficiency, which were secondary to non-cirrhotic portal hypertension and pulmonary arteriovenous shunts, respectively, developed over 2 years after HSCT and resulted in his death from respiratory failure 4 years after HSCT. This outcome suggests that while HSCT can correct bone marrow failure and immunodeficiency, it may fail to prevent or even aggravate other fatal processes, such as portal hypertension and pulmonary arteriovenous shunting.


Assuntos
Proteínas de Ciclo Celular/genética , Disceratose Congênita/terapia , Retardo do Crescimento Fetal/terapia , Deficiência Intelectual/terapia , Microcefalia/terapia , Proteínas Nucleares/genética , Transplante de Células-Tronco de Sangue Periférico , Pré-Escolar , Disceratose Congênita/complicações , Disceratose Congênita/genética , Disceratose Congênita/patologia , Retardo do Crescimento Fetal/genética , Retardo do Crescimento Fetal/patologia , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Masculino , Microcefalia/complicações , Microcefalia/genética , Microcefalia/patologia , Transplante de Células-Tronco de Sangue Periférico/efeitos adversos , Transplante de Células-Tronco de Sangue Periférico/métodos , Mutação Puntual
13.
Australas Psychiatry ; 27(5): 519-521, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31179721

RESUMO

OBJECTIVE: The Royal Australian and New Zealand College of Psychiatrists' (RANZCP) treatment guidelines set the zeitgeist for psychiatric practice in Australasia. This review conceptualises the current approach to treatment of individuals with an intellectual disability and co-occurring mental illness in RANZCP guidelines, and its potential impact. CONCLUSIONS: The enduring omission of people with an intellectual disability and co-occurring mental illness from RANZCP clinical guidelines is a missed opportunity in normalising care and optimising outcomes for people with an intellectual disability. There are substantial cultural, political and historical overlays contributing to the ongoing divide between health and disability. In developing psychiatric guidelines, authors should consider including people with co-occurring intellectual disability as a specific population, that requires distinctive consideration.


Assuntos
Deficiência Intelectual/terapia , Transtornos Mentais/terapia , Guias de Prática Clínica como Assunto/normas , Psiquiatria/normas , Sociedades Médicas/normas , Austrália , Comorbidade , Humanos , Deficiência Intelectual/epidemiologia , Transtornos Mentais/epidemiologia , Nova Zelândia
14.
Tijdschr Psychiatr ; 61(6): 375-383, 2019.
Artigo em Holandês | MEDLINE | ID: mdl-31243747

RESUMO

BACKGROUND: In ambulant psychiatric care, intellectual disability (id) is often not recognised. Therefore, a Screener for Intelligence and Learning disabilities (scil) was recently introduced to assist recognition. However, because, current therapy is not adjusted for id-related problems, its effectiveness remains unknown.
AIM: To gain insight into adequate adaptation of interventions by professionals for patients with severe mental illness (smi) and id, to improve the quality of care without the need to develop a completely new program of therapy.
METHOD: A qualitative design (n=15) including 8 interviews and one focus group, among psychiatric practitioners and id experts.
RESULTS: Five main themes were identified to adjust therapy: treatment, communication, inclusion of the network, estimation of support needs and self-management. CONCLUSIONS To align therapy with the requirements of patients with smi and id, a patient-oriented approach to care is necessary. Simple but effective modifications, summarised in a toolkit, appear to contribute to this. To offer appropriate care to patients with smi and id, attention is needed for both a support-oriented and a recovery-oriented approach.


Assuntos
Atitude do Pessoal de Saúde , Deficiência Intelectual/terapia , Transtornos Mentais/terapia , Assistência Centrada no Paciente , Comunicação , Grupos Focais , Humanos , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/psicologia , Programas de Rastreamento , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Assistência Centrada no Paciente/organização & administração , Pesquisa Qualitativa , Índice de Gravidade de Doença
15.
Prensa méd. argent ; 105(4): 165-173, jun 2019. fig
Artigo em Inglês | LILACS, BINACIS | ID: biblio-1026686

RESUMO

Problem and aim. Deviant behavior is not only an alarming phenomenon but also a multitude of social, pedagogic and psychological problems that threaten the society and that became particularly relevant for the young adolescents with intellectual disability. Therefore, the aim of the present article is to reveal the specifics of correctional and developmental work with such children that would provide appropriate interpersonal interaction in the adolescence and the further positive socialization. Methods. The presented study was conducted in three stages (exploratory-preparatory, experimental and control-generalizing stages) with the use of the Buss-Durkee Hostility Inventory. Results and discussion. The results showed that the predominant from of the deviant behavior was hostility and violence, as well as a tendency for addictive behavior. Diagnostics of the dominant indices of hostility and aggressiveness demonstrated that the aggressiveness index dominated in the majority of adolescents. The majority of adolescents had a very high or high level of indirect hostility and assault, along with suspicion. The correctional program provides correctional effect for the adolescents with low and medium level of proneness to the deviant behavior


Assuntos
Humanos , Adolescente , Ensino de Recuperação/tendências , Adaptação Psicológica , Agressão/psicologia , Hostilidade , Relações Interpessoais , Deficiência Intelectual/psicologia , Deficiência Intelectual/terapia , Avaliação de Resultado de Intervenções Terapêuticas/métodos
16.
Gait Posture ; 71: 105-115, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31039461

RESUMO

BACKGROUND: Clinical laboratory testing of locomotor disorders is challenging in patients with intellectual disability (ID). Nevertheless, also in this population gait analysis has substantial value as motor problems are common. To promote its use, adequate protocols need to be developed and the impact on clinical decision making needs to be documented. RESEARCH QUESTION: What is the clinical usefulness of instrumented motion analysis in patients with ID? METHOD: This narrative review consists of three parts. A literature review was performed to describe the gait pattern of patients with ID. Next, benefits and challenges of standard gait analysis protocols are described. Finally, a case of a girl with ID due to genetic cause showing gait abnormalities is discussed. RESULTS: The literature review resulted in 20 studies on "gait" in patients with an "ID", published since August, 1st 2013. Gait deviations were observed in all studies investigating the ID population with an underlying genetic syndrome. Observed gait deviations in the ID population might be attributed to physical characteristics, cognitive components or both. The main goal of clinical gait assessment is the identification of gait deviations and the evaluation of their progress over time, in order to optimize the treatment plan. The choice of adequate method and measurement modalities depends on the clinical goal, the available resources and the abilities of the patient. In the case report we presented, we succeeded in performing an instrumented 3D gait analysis in a girl with severe ID at the ages of 4y4m, 6y0m, 7y2m and 8y2m. Progressive gait deviations were found suggesting a crouch gait pattern was developing. Results of the gait analysis led to the prescription of rigid ankle-foot orthoses. SIGNIFICANCE: Gait analysis has substantial value for patients with ID. Gait analysis allows clinicians to objectify the relationship between physical characteristics and gait features.


Assuntos
Transtornos Neurológicos da Marcha , Deficiência Intelectual , Feminino , Marcha , Transtornos Neurológicos da Marcha/etiologia , Humanos , Deficiência Intelectual/fisiopatologia , Deficiência Intelectual/terapia , Movimento (Física) , Modalidades de Fisioterapia
18.
BMC Med Educ ; 19(1): 148, 2019 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-31096962

RESUMO

BACKGROUND: There is a need to educate a range of professionals in caring for individuals with long-term mental disability who reside within our communities. Empathy alone is insufficient. The Kognus 4-Step Education Program was developed to achieve this goal. METHOD: The program consisted of independent courses, including an 18-session basic course on psychiatric disability (on-site or online), advanced courses, and highly specialized training programs (Nidotherapy/Peer Consultation). Experts lectured together with clients with psychiatric disabilities. We first report Swedish reforms in which institutionalized patients were relocated to semi-independent individual households. We then describe the design and implementation of the education program. Approximately 50% of participants who were younger than 36 years old lacked any healthcare education. The participants' backgrounds, perceptions, participation in the education program, and costs are presented. RESULTS: Between 2009 and 2014, 8959 participants attended the Kognus psychiatry courses online or on-site in Stockholm (basic on-site course, n = 2111; online course, n = 4480; advanced courses, n = 2322; highly specialized programs, n = 46). A total of 73% of the participants satisfactorily attended the basic sessions on-site compared with 11% of the online participants. The developers conducted the education program for the first 3 years. Thereafter, another course provider continued the program with other types of participants. The program was perceived to be equally interesting and meaningful to participants with low and high levels of education, demonstrating the generalizability of the program. The quality of the basic and advanced courses was rated as 4.4 and 4.3, respectively, on a 5-point Likert scale. CONCLUSIONS: Personnel without appropriate education who work with people with psychiatric/intellectual disabilities can be educated in large numbers. The Kognus program represents a novel and successful way of training people who have no formal education about some essentials of good mental healthcare. Moreover, the model can be easily implemented elsewhere.


Assuntos
Pessoal de Saúde/educação , Deficiência Intelectual/terapia , Serviços de Saúde Mental/normas , Competência Profissional/normas , Psiquiatria/educação , Pesquisa sobre Serviços de Saúde , Humanos , Serviços de Saúde Mental/economia , Avaliação de Programas e Projetos de Saúde , Psiquiatria/normas , Melhoria de Qualidade/economia , Qualidade da Assistência à Saúde , Suécia/epidemiologia
19.
J Autism Dev Disord ; 49(6): 2437-2446, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30945092

RESUMO

In the last decade, the prevalence of children with autism spectrum disorder (ASD) without intellectual disability (ID) in schools has increased. However, there is a paucity of information on special education placement, service use, and relationships between service use and demographic variables for children with ASD without ID. This study aimed to describe and explore variation in type and amount of special education services provided to (N = 89) children with ASD. Results indicated that the largest percentage of children received services under the Autism classification (56.2%) and were in partial-inclusion settings (40.4%). The main services received were speech (70.8%) and occupational (56.2%) therapies, while few children received behavior plans (15.7%) or social skills instruction (16.9%). Correlates with service use are described.


Assuntos
Transtorno do Espectro Autista/psicologia , Transtorno do Espectro Autista/terapia , Educação Especial/métodos , Instituições Acadêmicas , Habilidades Sociais , Transtorno do Espectro Autista/epidemiologia , Criança , Educação Especial/tendências , Feminino , Humanos , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/psicologia , Deficiência Intelectual/terapia , Masculino , Prevalência , Instituições Acadêmicas/tendências , Fala/fisiologia
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