Transcutaneous electrical acupoint stimulation based on electro-oculogram signal regulation for children with mental retardation: a randomized controlled trial / 中国针灸

OBJECTIVE@#To observe the clinical efficacy of transcutaneous electrical acupoint stimulation (TEAS) at Changqiang (GV 1) based on the modulation of electro-oculogram (EOG) signal for children with mental retardation, and explore the evaluation effect of the goal attainment scale (GAS) in children with mental retardation.@*METHODS@#Sixty children with mental retardation were randomly divided into a treatment group and a control group, with 30 cases in each one. The children in the control group were treated with conventional rehabilitation, 5 times a week. On the basis of the control group, TEAS at Changqiang (GV 1) under the modulation of EOG signal was adopted in the treatment group. When the similarity between the collected EOG signal and the template was within the range of EOG threshold, one electric stimulation was triggered at Changqiang (GV 1) for 20 s (continuous wave, 70-100 Hz in frequency, 0.1-0.2 ms in pulse width), lasting 30 min in each treatment, the intervention was given twice a week. One course of treatment was composed of 4 weeks, and 3 courses were required in total in the two groups. The infant-junior high school student's social living ability scale (S-M) and GAS were scored and compared before and after treatment in the two groups.@*RESULTS@#After treatment, the scores of self-living ability in the treatment group and communication ability in the control group were higher than those before treatment (P<0.01, P<0.05). The scores of collective activity and motor ability in the treatment group were higher than those in the control group (P<0.05). After treatment, GAS scores were higher than before treatment in both groups (P<0.001), and the score in the treatment group was higher than the control group (P<0.05).@*CONCLUSION@#TEAS under the modulation of EOG signal is conductive to improving the collective, motor and self-living abilities of the children with mental retardation and promoting children's individual goals. Compared with the standard score of S-M, the T value of GAS can better reflect the subtle progress of individual.

Limites e potencialidades na pesquisa com foco em grupo terapêutico transdisciplinar / Limits and potentialities in research focusing on a transdisciplinary therapeutic group: an experimental report

Objetivo: Descrever os efeitos da realização de um grupo terapêutico transdisciplinar, en-volvendo a Psicologia e a Fonoaudiologia, destinada a uma criança com deficiência in-telectual e sua família, bem como apresentar os aspectos burocráticos para a execução desse projeto de pesquisa em uma faculdade de pequeno porte.Método: foi realizada uma pesquisa qualitativa e descritiva, com o relato de experiência do processo de tramitação do projeto até a execução dos grupos terapêuticos com uma criança com diagnóstico de deficiência intelectual e sua família, envolvendo profissionais e acadêmicas da Psicologia e da Fonoaudiologia. Resultados: Muitos desafios foram encontrados nesse percurso desde a elaboração do projeto até a captação dos participantes, entre eles o pouco engajamento da maioria das acadêmicas envolvidas e a interrupção do projeto devido à pandemia da COVID-19. Mesmo assim, alguns avanços foram percebidos na família, como busca por terapeuta ocupacional para auxiliar no caso e esforço para dar mais independência à crian-ça. Considerações finais: Conclui-se que a pesquisa ainda é pouco valorizada no Brasil em diferentes instâncias e que a realização de grupos terapêuticos transdisciplinares parece ser uma estratégia promissora na melhora da dinâmica familiar, na comunicação e na indepen-dência das pessoas com deficiência intelectual.

Aim:The aim was to describe the effects of a transdisciplinary therapeutic group, inclu-ding Psychology and Speech Pathology, with a child with an intellectual disability and her family. We also aimed to present the bureaucratic aspects faced to carry out this research in a small college. Method:Qualitative and descriptive research was conducted, with an experimental report on the whole project process and the implementation of therapeutic groups with a preteen diagnosed with intellectual disability and her family. The therapists were Psychology and Speech Therapy professionals and students. Results: Many challen-ges occurred in the process, such as: attracting participants, little engagement of students, and a project interruption due to the coronavirus pandemic. However, we were able to verify some progress; the family hired an occupational therapist to help them, for instance. They were also more engaged in promoting independence for the child.Conclusion: Re-search is underrated in Brazil, considering different places and situations. Implementing transdisciplinary groups can be a promising strategy for improving family relationships, communication, and independence of people with intellectual disabilities.

Síndrome de Cotard y retraso mental: reporte de un caso / Cotard syndrome and intellectual disability: a case report

Resumen El síndrome de Cotard, descrito en la historia por presentar diferentes tipos de delirios siendo el principal el nihilista o de negación, ha sido reportado en diversos trastornos neuropsiquiátricos; sin embargo, existe poca literatura que lo refiera en el contexto de retraso mental, por lo que el objetivo del trabajo es examinar las características del Síndrome de Cotard a propósito de un reporte de caso. Presentamos a un paciente de 19 años que cumple con los criterios para Retraso mental y Síndrome de Cortad. Se revisó la literatura, hallando sucinta data en que se presente cuadros similares. Sería muy recomendable continuar evaluando con mayor profundidad la asociación entre retraso mental y síndrome de Cotard e investigar la respuesta al tratamiento, dado que no existen protocolos en nuestra región.

Cotard syndrome, described in the history for presenting different types of delusions being the principal as the nihilistic delusion or delusion of negation, was reported on neuropsychiatric disorders. However, there is little literature that refers to it in the context of mental retardation. The aim of this report case is to explore the characteristics of Cotard syndrome. We present a 19 year-old boy who complete criteria for intellectual disability and Cotard syndorme. The literature was reviewed, finding succinct data associated to cases like this. We recommend to evaluate deeply the association between intellectual disability and Cotard syndrome and to research the treatment, given that there are no protocols in our region.

Effect of horse riding equipment in activity of trunk and lower limb muscles in equine-assisted therapy

Equine-assisted therapy uses the horse in rehabilitation and/or education of people, such as Down syndrome(SD), cerebral palsy(PC)and intellectual disability(DI). In context, the rehabilitation program and horse riding equipment should be usedaccording to the specific characteristics of each individual, becoming an ally in the quest for excellence in equine-assisted therapy programs. The aim was to evaluate the effect of riding equipment used in equine-assisted therapy on the muscular activityof trunk and lower limb of individuals with SD, PC and DI. The study included 15 individuals equally assigned to each group: SD, PC and DIwith a mean age of 16.2 (±1.10), 16 (±1.22)e 16 (±0) years,respectively. The analysis of muscle activity was performed through surface electromyography, using four variations of horse riding equipment: saddle with and without feet supported on the stirrups and blanket with and without feet supported on the stirrups. Sigma Stat 3.5®software was used for statistical analysis.The Shapiro Wilk's test was used for normality of the data, the Bartlett test for homogeneity of the variances and the Kruskal-Wallis test for repeated measures with no normal distribution.Statistically significant differences were observed forp<0.05.The SDgroup presented a greater muscular activity of trunk and lower limbs with blanket equipment without the feet supported in the stirrups (H = 15.078, p = 0.002), as in the DI group (H=8.302, p = 0.040), while inPCgroup was the saddle with feet supported in the stirrups (H=11.137,p = 0.011). The choice of riding equipment used in equine-assisted therapy interferes differently in the pattern of muscular activation of the trunk and the lower limbs, according to the pathological processes of the practitioners. It should be an important aspect to consider when planninga treatment.

Importancia de las arritmias cardiacas inducidas por tioridazina en las edades geriátricas / Importance of the heart arrhythmias induced by thioridazine in geriatric ages

RESUMEN Introducción: la discapacidad mental, íntimamente relacionada con el incremento de la expectativa de vida, se considera uno de los problemas más graves que hay que enfrentar en la centuria recién iniciada. Esto trae consigo el aumento de la prescripción de agentes anti psicóticos, como la tioridazina, lo que tiende a convertirse en un problema de salud al causar arritmias y en ocasiones fatales. Aún no se conoce en qué grado estas alteraciones son responsables de algunas muertes súbitas ocurridas en personas que tomaban estos medicamentos. Objetivo: identificar cuáles son las alteraciones clínicas y electrocardiográficas en los pacientes que usan la tioridazina, como droga de elección en los trastornos psiquiátricos. Materiales y métodos: se realizó un estudio descriptivo, a los ancianos atendidos en el Servicio de Geriatría que ingieran tioridazina, en cualquier dosis. Durante al período de marzo del año 2017 hasta marzo del 2018. Resultados: predominaron los ancianos del sexo femenino y comprendido en las edades 60 y 74 años, con nivel de escolaridad secundario, lo que se correlacionó con la doble función de la mujer en la sociedad actual, y el elevado nivel de escolaridad de la ciudadanía cubana. Predominaron antecedentes de hipertensión arterial y diabetes, al igual las palpitaciones en relación a un aumento de los bloqueos del has de his, observados en los electrocardiogramas. No se presentaron fallecidos. Conclusiones: deben utilizarse dosis bajas del medicamento, por corto tiempo y bajo supervisión electrocardiográfica (AU).

ABSTRACT Introduction: mental incapacity, tightly related to the life expectancy increase, is considered one of the most serious problems to afford in the current century. It brings about the increase of the prescription of anti-psychotic agents, like thioridazine, tending to become a health problem because of causing arrhythmias that are occasionally life-threatening. It is still unknown in what level these alterations are responsible for several sudden deaths in persons who took these drugs. Objective: to identify which are the clinical and electrocardiographic alterations in patients using thioridazine as drug of choice in psychiatric disorders. Materials and methods: a descriptive study was carried out in all patients who attended the Geriatric Service taking thioridazine in any doses during the period from March 2017 to March 2018. Results: female elder people aged 60-74 years predominated, with secondary school scholarship, finding a relationship with the double function of women in the current society, and the high level of scholarship among Cuban citizen. Arterial hypertension and diabetes antecedents predominated, and also palpitations related to the increase of His bundle blockade observed in electrocardiograms. There were no deaths. Conclusions: low doses of the drug should be used for a short time and under electrocardiographic supervision (AU).

Specifics of psychological and pedagogic correction of deviani behavior in younger adolescents with intellectual disability

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

Psicosis, Discapacidad intelectual y trastornos conductuales: enfoque biopsicosocial / Psychosis, intellectual disability and behavioral disorders: biopsychosocial approach

Caso Clínico: Mujer, 23 años. Discapacidad intelectual. Asiste a colegio especial (no lee ni escribe). Institucionalizada. Motivo de ingreso: Paciente ingresa en octubre del 2017 traída por carabineros por ser encontrada en la calle bajo el efecto de múltiples sustancias, con ideación suicida. Días antes fue expulsada del hogar por agresión a cuidadoras. Diagnósticos de ingreso: Discapacidad intelectual moderado. Síndrome suicidal, Trastorno por dependencia a drogas. ¿Esquizofrenia hebefrénica? Evolución: Mantiene desajustes conductuales severos fluctuantes, con serias dificultades para manejar la rabia, lo que la lleva a tener conductas hetero y autoagresivas. Plan de tratamiento: Farmacológico (clozapina), Psicológico (TCC), Social (dispositivo adecuado post-alta). Clozapina para trastornos psicóticos en adultos con discapacidad intelectual. El principal riesgo de atribuir alguno de estos comportamientos a una supuesta "psicosis", es el de "medicalizar" y tratar de forma poco acertada. Es importante descartar factores ambientales y del aprendizaje (hábitos y conductas aprendidas, institucionalización, reacciones ante el estrés agudo.) La prevalencia de abuso y dependencia de sustancias en población con DI va desde el 0,5% al 2,6%. Lo cual es menor que la población general. Pacientes con DI y dependencia a drogas se asocia a otras enfermedades psiquiátricas (42-54%). Se ha informado que las personas con discapacidad intelectual en América Latina a menudo están institucionalizadas y escondidas de la sociedad en instalaciones deficientes y superpobladas.

Clinical Case: Female, 23 years old. Intellectual disability. He attends a special school (she does not read or write). Institutionalized. Reason for admission: Patient enters in October 2017 brought by police officers to be found in the street under the effect of multiple substances, with suicidal ideation. Days before she was expelled from the home because of assaulting caregivers. Admission diagnoses: Moderate intellectual disability. Suicidal syndrome, Disorder due to drug dependence. Hebephrenic schizophrenia? Evolution: Maintains fluctuating severe behavioral imbalances, with serious difficulties in managing rage, which leads to hetero and self-aggressive behaviors. Treatment plan: pharmacological (clozapine), Psychological (CBT), Social (adequate post-hospitalization discharge device). Clozapine for psychotic disorders in adults with intellectual disabilities. The main risk of attributing some of these behaviors to a supposed "psychosis" is that of "medicalizing" and dealing inappropriately. It is important to rule out environmental and learning factors (habits and behaviors learned, institutionalization, reactions to acute stress. The prevalence of substance abuse and dependence in the population with ID ranges from 0.5% to 2.6%. Which is less than the general population. Patients with ID and drug dependence are associated with other psychiatric illnesses (42-54%). It is reported that people with intellectual disabilty in Latin America are often institutionalized and hidden from society in poor and overcrowded facilities.

Atención odontológica a personas con discapacidad intelectual: una cuestión de derecho / Dental care for people with intellectual disabilities: a matter of law

En el planeta hay 100 millones de personas con alguna discapacidad yen México es el 6.2 por ciento de la población total. Estas personas son altamente vulnerables porque el entorno donde se desenvuelven no ofrece las condiciones para favorecer su integración y participación social, como el acceso a servicios médicos. De acuerdo con la Organización Mundialde la Salud, las personas con discapacidad son las menos atendidas en los Servicios Odontológicos, principalmente por inexperiencia del profesionista sobre el trato a estas personas, o bien por desconocimiento de los familiares-cuidadores de la importancia de mantener una boca sana. Las personas con discapacidad intelectual (PDI) constituyen un retopara el odontólogo, quien tiene que capacitarse para diseñar estrategiaspara su atención, ya que los tratamientos para este tipo de pacientes son específicos y poco convencionales. Adicionalmente conviene tomar precauciones en su atención dental, debido a que los PDI consumen diversos medicamentos, por lo que el odontólogo debe asegurarsecon otros especialistas para su manejo. Un punto medular sobre las características de la atención odontológica es que ésta tiene que generar confianza y enfrentar con paciencia y destreza a un PDI que cumpla con las expectativas del usuario, trato digno, calidez y confianza centrada en la prevención como principal criterio en la intervención odontológica, sobre todo en la supervisión de la higiene por parte de los familiares. Actualmente se habla de la relación médico-paciente participativa donde se define lo que corresponde a cada persona involucrada en el cuidado de la PDI, sin olvidar que esta atención conviene que sea en equipo. Así, ante este contexto, los odontólogos tendrían que formarseen el cuidado de la salud de las PDI quienes son sujetos de derecho,por tanto tienen que ser atendidos, respetados y tratados con dignidad.

On the planet, there are 100 million people with some disability andin Mexico; it is 6.2% of the total population. These people are highly vulnerable because the environment where they operate does not offer the conditions to favor their integration and social participation, such as access to medical services. According to the World Health Organization, people with disabilities are the least attended in the dental services, mainly because of the inexperience of the professional about the treatment of these people, or because the family/caregivers do notknow about the importance of maintaining a healthy mouth. People with intellectual disabilities (PIDs) are a challenge for the dentist,who has to be trained to design strategies for their care since the treatments for these types of patients are specific and unconventional.In addition, precautions should be taken in dental care, because PIDsconsume different medications, so the dentist must be sure with other specialists to handle them. A central point about the characteristicsof dental care is that it has to generate trust and face with patience and dexterity a PDIs that meets user expectations, dignified treatment, warmth, and confidence focused on prevention as the main criterion inthe intervention dental care, especially in the supervision of the hygieneby the relatives. At the moment we are talking about the participative doctor-patient relationship where it is defined that corresponds to eachperson involved in the care of the PDIs, without forgetting that this careshould be in a team. Thus in this context dentists should be trained inthe health care of the IDPs who are subjects of law, therefore have tobe attended, respected and treated with dignity.

Consent to care of persons with intellectual disability in Quebec: from vulnerability to capability / Consentimiento para el cuidado de las personas con discapacidad intelectual en Quebec: desde la vulnerabilidad hasta la capacidad

Abstract: Persons with an intellectual disability (ID) who interact with the Quebec health and social services system are faced with major decisions regarding the care they are offered. As consent to care derives from the fundamental right of all persons to personal inviolability and to autonomous decision making, they therefore have the right to accept or refuse any and all health and psychosocial care proposed. However, as free and informed consent to care must be given by an able person, the situation becomes somewhat more complicated whereas persons with ID are concerned. This article presents reflections on the challenges and issues relative to these persons' consent to health and psychosocial care.

Resumen: Las personas con discapacidad intelectual (ID) que interactúan con el sistema de salud y los servicios sociales de Quebec se enfrentan a decisiones importantes sobre la atención que se les brinda. Dado que el consentimiento a la atención se deriva del derecho fundamental de todas las personas a la integridad personal y a la toma de decisiones autónomas, éstas tienen el derecho de aceptar o rechazar cualquier atención de salud y psicosocial que se les proponga. Sin embargo, como el consentimiento libre e informado a la atención debe ser dado por una persona apta, la situación se vuelve más complicada en las personas con ID. Este artículo presenta reflexiones sobre los desafíos y temas relativos al consentimiento de estas personas hacia la salud y la atención psicosocial.

The intellectual developmental disorders Mexico study: situational diagnosis, burden, genomics and intervention proposal / Estudio sobre trastornos del desarrollo intelectual en México: diagnóstico situacional, carga, genómica y propuesta de intervenciones

Abstract: Objective: This study aims to generate evidence on intellectual development disorders (IDD) in Mexico. Materials and methods: IDD disease burden will be estimated with a probabilistic model, using population-based surveys. Direct and indirect costs of catastrophic expenses of families with a member with an IDD will be evaluated. Genomic characterization of IDD will include: sequencing participant exomes and performing bioinformatics analyses to identify de novo or inherited variants through trio analysis; identifying genetic variants associated with IDD, and validating randomly selected variants by polymerase chain reaction (PCR) and sequencing or real-time quantitative PCR (qPCR). Delphi surveys will be done on best practices for IDD diagnosis and management. An external evaluation will employ qualitative case studies of two social and labor inclusion programs for people with IDD. Conclusions: The results will constitute scientific evidence for the design, promotion and evaluation of public policies, which are currently absent on IDD.

Resumen: Objetivo: Esta investigación busca generar evidencia sobre trastornos del desarrollo intelectual (TDI) en México. Material y métodos: La carga de la enfermedad por TDI se estimará con un modelo probabilístico usando encuestas poblacionales. Se estimarán costos directos e indirectos de gastos catastróficos de familias con un integrante conTDI. La caracterización genómica deTDI incluirá secuenciar exomas, realizar análisis bioinformático para identificar variantes de novo o heredadas a través de análisis de tríos, identificar variantes genéticas asociadas con TDI, y validar variantes aleatoriamente seleccionadas con reacción en cadena de polimerasa y secuenciación o qPCR. Se harán encuestas Delphi sobre mejores prácticas de diagnóstico y manejo de TDI. Una evaluación externa empleará estudios cualitativos de caso de dos programas de inclusión social y laboral para personas con TDI. Conclusiones: Los resultados serán evidencia científica que podrá ser la base para el diseño, promoción y evaluación de políticas públicas, actualmente ausentes para TDI.

Estratégias de enfrentamento adotadas por pais de crianças com deficiência intelectual / Coping strategies adopted by parents of children with intellectual disabilities

Resumo As tarefas de cuidado da criança com deficiência eliciam estressores relacionados ao contexto de vida. O estudo objetivou investigar as estratégias de enfrentamento adotadas por pais de crianças com deficiência intelectual (DI). A revisão integrativa abrangeu artigos publicados no período de 2001 a 2015, indexados nas bases PubMed, Lilacs e PsycINFO, com base nos descritores: deficiência intelectual, enfrentamento, pais, cuidadores, família. Foram selecionados 13 artigos, a maioria com delineamento transversal, comparativo e quantitativo. Os resultados indicaram que cuidar de pessoas com DI é estressante para a família. O estresse parental suscita mudanças no ajustamento familiar e estratégias são acionadas para facilitar o convívio com a pessoa com DI, sendo as principais: busca de apoio social nos familiares e serviços profissionais, união dos cônjuges e busca de informação. A busca de apoio social foi altamente associada ao fortalecimento da resiliência familiar. Em contrapartida, pensamento fantasioso, autoculpabilização, distanciamento e isolamento social foram negativamente relacionados com as fortalezas da família. É necessário sensibilizar os profissionais de saúde e educadores para acolherem o tema em políticas públicas e estratégias preventivas, diagnósticas e terapêuticas.

Abstract The tasks of caregiving for children with disabilities involve contextual life stressors. The study aimed to investigate the coping strategies used by parents of children with intellectual disabilities (ID). The search included articles published between 2001 and 2015 on the PubMed, LILACS and PsycINFO databases, using the following key words: intellectual disability, coping, parents, caregivers, family. Thirteen articles were selected, the majority of which adopt a cross-sectional, comparative and quantitative approach. Results indicated that caring for a person with ID is stressful for the family. Parental stress generates changes in the family dynamic and coping strategies are used to facilitate the interaction of the caregiver with the person with ID. Seeking social support in family and professional services, the union of spouses, and search for information, among others, are the main strategies used. Social support was strongly associated with strengthening of the family unit. In contrast, wishful thinking, self-blame, distancing and social isolation were negatively associated with family unity. It is necessary to sensitize health professionals and educators to embrace the theme in public policies and preventive, diagnostic and therapeutic strategies.

Experiências vividas por mães de crianças com deficiência intelectual nos itinerários terapêuticos / Experiences in the therapeutic itineraries of mothers of children with intellectual disabilities

Resumo O objeto deste estudo são as experiências vividas por mães de crianças com deficiência intelectual. O objetivo é descrever as experiências vividas por mães de crianças acompanhadas em uma instituição especializada de Feira de Santana (BA) nos seus itinerários terapêuticos. O estudo de abordagem qualitativa foi realizado por meio de entrevista semiestruturada. Os resultados evidenciaram que a descoberta de que o filho tem uma deficiência intelectual é experienciada pelas mães com sentimentos de choque e negação, raiva, barganha, depressão e aceitação. As dificuldades nos itinerários terapêuticos têm início já no momento em que a criança obtém o diagnóstico da deficiência intelectual, pelo despreparo dos profissionais de saúde para comunicá-lo, fato que impele as mães a buscarem outros serviços de saúde. Ainda que o acesso à saúde seja um dos princípios do Sistema Único de Saúde, os itinerários são permeados por obstáculos, nas dimensões geográfica, econômica e funcional. A deficiência intelectual é um problema de saúde que demanda cuidados constantes, cujo impacto repercute nas dinâmicas, identidades e papéis familiares, requerendo a oferta de atenção integral às crianças e aos seus cuidadores, sobretudo na forma de apoio, para que possam sustentar o seu papel protetivo.

Abstract The scope of this study is to describe the experiences of mothers of children with intellectual disabilities who have been treated in a specialized institution in Feira de Santana, State of Bahia, during their therapeutic itineraries. The study adopted a qualitative approach and was conducted by means of semi-structured interviews. The results revealed that the discovery that their child has an intellectual disability is accepted by their mothers with emotions of shock, denial, anger, negotiation, depression and subsequent acceptance. The difficulties in therapeutic itineraries begin after the moment the child is diagnosed as having an intellectual disability, due to the lack of experience of health professionals in communicating the fact, which leads the mothers to search for other health services. Despite access to healthcare being one of the principles of the Unified Health System (SUS), therapeutic itineraries are fraught with difficulties at a geographical, economic and functional level. Intellectual disability is a health issue demanding constant care, and its impacts have repercussions in the family dynamics, identities and roles, requiring comprehensive attention to the children and their caretakers, especially in the type of support such that they may maintain their protective roles.

Interface between Intellectual Disability and Mental Health: hermeneutic review / Interface entre Deficiência Intelectual e Saúde Mental: revisão hermenêutica

A literature review was conducted aiming to understand the interface between the Intellectual Disability and Mental Health fields and to contribute to mitigating the path of institutionalizing individuals with intellectual deficiencies. The so-called dual diagnosis phenomenon remains underestimated in Brazil but is the object of research and specific public policy internationally. This phenomenon alerts us to the prevalence of mental health problems in those with intellectual disabilities, limiting their social inclusion. The findings reinforce the importance of this theme and indicate possible diagnostic invisibility of the development of mental illness in those with intellectual disabilities in Brazil, which may contribute to sustaining psychiatric institutionalization of this population. .

Realizou-se revisão da literatura com o objetivo de compreender a interface entre os campos da Deficiência Intelectual e da Saúde Mental e contribuir para a mitigação da trajetória de institucionalização das pessoas com deficiência intelectual. Ainda subestimado no Brasil, mas constituindo-se internacionalmente como objeto de investigações e de políticas públicas específicas, o chamado diagnóstico dual alerta à prevalente ocorrência de problemas de saúde mental em pessoas com deficiência intelectual e sua consequente limitação aos processos de inclusão social. Os achados corroboram a relevância da temática e apontam possível invisibilidade dos processos de adoecimento psíquico das pessoas com deficiência intelectual no País, o que pode contribuir para manutenção de percursos de institucionalização psiquiátrica dessa população.

De Sanctis-Cacchione Syndrome in a female infant - Case report / Sindrome de De Sanctis-Cacchione em lactente do sexo feminino - Relato de caso

The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported.

A síndrome de de Sanctis-Cacchione é a forma mais rara e grave do xeroderma pigmentoso e é caracterizada por microcefalia, hipogonadismo, alterações neurológicas e retardo mental e de crescimento, com poucos casos publicados. Relatam-se os achados clínicos compatíveis com essa síndrome e a terapêutica instituída em uma lactente de um ano e nove meses, com diagnóstico prévio de xeroderma pigmentoso.

Revisión acerca del retraso mental de origen genético / Autosomal dominant mental retardation: a review

El retraso mental es una entidad clínica que se presenta con alta frecuencia en la población general y obedece a múltiples causas. El retraso mental de origen genético es etiológicamente heterogéneo y suele presentarse formando parte de cuadros clínicos más complejos. En la actualidad aún son pocos los genes conocidos asociados a este fenotipo, si bien para algunas enfermedades éstos están bien establecidos, como es el caso de la neurofibromatosis tipo 1, la esclerosis tuberosa y la distrofia miotónica de Steinert, todos ellos trastornos monogénicos de transmisión autosómica dominante causados por mutaciones en los genes NF1, TSC1 y TSC2, y DMPK, respectivamente. Estudios recientes están empezando a elucidar la patogénesis de estas enfermedades, sugiriendo así posibles dianas terapéuticas. Otra entidad que cursa con retraso mental autosómico dominante son los desequilibrios cromosómicos crípticos, que también acostumbran a asociarse a cuadros sindrómicos y que están empezando a ser diagnosticados actualmente gracias a las nuevas técnicas moleculares. En el presente trabajo se profundiza en el retraso mental que presenta un patrón de herencia autosómico dominante, con especial énfasis en las enfermedades neurofibromatosis tipo 1, esclerosis tuberosa y distrofia miotónica de Steinert, y en el causado por desequilibrios cromosómicos crípticos.

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis

Etiology and classification: Causal factors related with cognitive disability are multiples and can be classified as follows: Genetic, acquired (congenital and developmental), environmental and sociocultural. Likewise, in relation to the classification, cognitive disability has as a common denominator a subnormal intellectual functioning level; nevertheless, the extent to which an individual is unable to face the demands established by society for the individual’s age group has brought about four degrees of severity: Mild, moderate, severe and profound. Diagnostic: The clinical history must put an emphasis on healthcare during the prenatal, perinatal and postnatal period and include the results of all previous studies, including a genealogical tree for at least three generations and an intentional search for family antecedents of mental delay, psychiatric illnesses and congenital abnormalities. The physical exam should focus on secondary abnormalities and congenital malformations, somatometric measurements and neurological and behavioral phenotype evaluations. If it is not feasible to establish a clinical diagnosis, it is necessary to conduct high-resolution cytogenetic studies in addition to metabolic clinical evaluations. In the next step, if no abnormal data are identified, submicroscopic chromosomal disorders are evaluated. Prognosis: Intellectual disability is not curable; and yet, the prognostic in general terms is good when using the emotional wellbeing of the individual as a parameter. Conclusions: Intellectual disability should be treated in a comprehensive manner. Nevertheless, currently, the fundamental task and perhaps the only one that applies is the detection of the limitation and abilities as a function of subjects’ age and expectations for the future, with the only goal being to provide the support necessary for each one of the dimensions or areas in which the person’s life is expressed and exposed.

Etiología y clasificación: múltiples factores causales están relacionados con la discapacidad cognoscitiva y pueden clasificarse de la siguiente manera: genéticos, adquiridos, (congénitos y de desarrollo), ambientales y socioculturales. Del mismo modo, en cuanto a la clasificación, la discapacidad cognoscitiva tiene como común denominador un nivel de funcionamiento intelectual por debajo de lo normal; sin embargo, la medida en que una persona es incapaz de afrontar las demandas establecidas por la sociedad para su grupo de edad ha dado origen a cuatro grados de severidad: ligera, moderada, severa y profunda. Diagnóstico: el historial clínico debe hacer énfasis en el cuidado de la salud durante el periodo prenatal, perinatal y postnatal e incluir los resultados de todos los estudios previos, incluyendo un árbol genealógico de al menos tres generaciones y una búsqueda intencional de antecedentes familiares de retraso mental, enfermedades psiquiátricas y anomalías congénitas. El examen físico debe concentrarse en anomalías secundarias y en malformaciones congénitas, mediciones somatométricas, y evaluaciones del fenotipo neurológico y conductual. Si no es posible establecer un diagnóstico clínico, se deben hacer estudios citogenéticos de alta resolución en adición a las evaluaciones clínicas metabólicas. Si no se identifican datos anormales, el siguiente paso consiste en la evaluación de trastornos cromosómicos submicroscópicos. Prognosis: la discapacidad intelectual no es curable, sin embargo el prognóstico es bueno en términos generales cuando se usa como parámetro el bienestar emocional del individuo. Conclusiones: el tratamiento para discapacidad intelectual requiere de un enfoque amplio. Sin embargo, la tarea principal y quizás la única que tiene aplicación es la detección de las limitaciones y habilidades en función de la edad y expectativas para el futuro de la persona, con el único fin de proporcionar el apoyo necesario para cada...

Intellectual disability: an approach from the health sciences perspective: [review]

Intellectual disability (ID) is a complex condition that has not aroused very much interest in the health sciences and medical fields. As a result, a large part of the responsibility for caring for individuals with ID has fallen in the areas of education, social services and volunteering. Nevertheless, intellectual disability is a very significant health problem, whether because of its prevalence, the costs to the public health system, the families and society in general or due to related health complications. ID should be a priority area of study and action in the health field. This article reviews the conceptual, diagnostic and etiological problems that affect intellectual disability, as well as factors related with the health of the persons who are affected. In addition, some recommendations are outlined for improving health care for this population group.

La discapacidad intelectual (DI) es una condición compleja que no ha despertado gran interés en el campo médico y en el de las ciencias de la salud. Como consecuencia, gran parte de la responsabilidad del cuidado de los individuos con DI ha recaído en las áreas de la educación, el servicio social y el voluntariado. Sin embargo, la discapacidad intelectual es un problema de salud muy significativo, ya sea por su prevalencia, por los costos para el sistema de salud pública, para las familias y para la sociedad en general o debido a las complicaciones de salud relacionadas con ella. La DI debería ser un área de estudio y de acción prioritaria en el campo de la salud. Este artículo revisa los problemas conceptuales, diagnósticos y etiológicos que afectan a la discapacidad intelectual, así como los factores relacionados con la salud de las personas afectadas. Además se delinean algunas recomendaciones para mejorar el cuidado de la salud en este grupo de población.

Promotion of physical activity in individuals with intellectual disability: [review]

This paper provides an overview of strategies that have been used to promote physical activity in individuals with intellectual disability. Several different approaches are discussed and the strengths and limitations of each are presented. Some determinants of physical activity for individuals with intellectual disability are also reported in an effort to better understand the factors that influence participation that could be targeted in future interventions. Recommendations for programming are provided.

Este artículo presenta un panorama de las estrategias que se han empleado para promover la actividad física en individuos con discapacidad intelectual. Se discuten varios enfoques distintos y se presentan las fortalezas y limitaciones de cada uno. Se informa asimismo acerca de algunos de los determinantes de la actividad física para los individuos con discapacidad intelectual para contribuir a un mayor entendimiento de los factores que influyen en la participación y que podrían ser el objetivo de futuras intervenciones. Se proporcionan recomendaciones para la programación.

Physical activity and persons with intellectual disability: some considerations for Latin America: [review]

Physical activity is a personal and societal investment in health. In Latin America, rates of non-communicable diseases are growing and there is burgeoning interest in physical activity as a preventative health measure. This paper describes physical activity among adults with intellectual disability from a public health perspective; and provides recommendations related to the need for, and measurement of, physical activity among persons with intellectual disability in Latin America.

La actividad física es una inversión en salud, tanto personal como social. En América Latina las tasas de enfermedades no transmisibles van en aumento y existe un creciente interés en la actividad física como medida de salud preventiva. Este artículo describe la actividad física entre adultos con discapacidad intelectual desde la perspectiva de la salud pública y proporciona recomendaciones pertinentes a la necesidad y medición de la actividad física entre personas con discapacidad intelectual en América Latina.