Turner syndrome and neuropsychological abnormalities: a review and case series.

OBJECTIVE: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). METHODS: A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases. RESULTS: Our study showed a potential correlation between neurological and psychiatric alterations in patients with TS. These findings are in accordance with those described in literature such as a high prevalence of learning or intellectual disabilities. However, our sample found more seizure episodes than those reported in other studies. CONCLUSIONS: The correlation established could be due to X chromosome dose-effect, as the review suggests that sex chromosome number and hormonal development can be associated with verbal, social, and cognitive skills or impairments.

Interpersonal violence against people with intellectual disabilities in São Paulo, Brazil: characteristics of victims, perpetrators and referrals.

INTRODUCTION: Interpersonal violence is a phenomenon that can occur with different people and conditions. However, people with intellectual disabilities have increased vulnerability to this problem, with potential risks to their health and well-being. The aim of this study was to identify the sociodemographic characteristics of people with disabilities who have been victims of interpersonal violence, the profile of the perpetrators and the measures taken after the victims have been cared for. METHODS: This is an exploratory, descriptive, cross-sectional study using the Interpersonal Violence Notification Forms entered into the Brazilian Ministry of Health's Notifiable Diseases Information System. The city of São Paulo was chosen as the setting because it is the largest city in Latin America and has a faster data processing system than other cities. The period covered notifications made between 2016 and 2022. The information was collected between October and November 2023 and a univariate statistical analysis was carried out. Fisher's exact test was used, with a significance level of 5% (α = 0.05). RESULTS: There were 4,603 notifications against people with intellectual disabilities in the period. The forms of physical violence, neglect/abandonment and psychological/moral violence were more frequent in the 15-19 age group, while sexual violence was more frequent in the 10-14 age group (p < 0.001). The sex most often attacked was female in all the forms investigated (p < 0.001) and the skin colors of the most victimized people were black and/or brown, except in cases of neglect/abandonment (p = 0.058). Most of the victims had little schooling (p = 0.012). The aggressions were committed by one person (p < 0.001), known or related to the victim, such as mother or father, except in cases of sexual violence, where strangers were the main perpetrators (p < 0.001). The sex of the perpetrator was male, except in cases of neglect and/or abandonment (p < 0.001), and the age was between 25 and 29 (p = 0.004). In cases of sexual violence, rape was the most frequent and the procedures carried out were blood collection followed by prophylaxis for Sexually Transmitted Infections (STIs) were the main procedures carried out by health professionals (p = 0.004). The majority of referrals made after receiving care were to the health and social assistance network, with few referrals to bodies such as the human rights reference center, guardianship council and police stations (p < 0.001). CONCLUSION: People with intellectual disabilities are highly vulnerable to the forms of violence studied, especially children and adolescents, black or brown, with low levels of education. The perpetrators are usually close people, male and older than the victims. The referrals made by health professionals did not prioritize the victim's safety and the guarantee of human rights. Lines of care for the health of victims of violence should be implemented, taking into account special aspects, such as people with intellectual disabilities, whose search for help can be difficult.

Primary Validation of the Submandibular Skinfold as an Anthropometric Measurement of Cardiometabolic Risk in People with Intellectual Disabilities.

The accumulation of body fat is an important cardiometabolic risk factor; however, there is no consensus about which measure is more reliable for the assessment of cardiometabolic risk in people with intellectual disabilities. The aim of the present study was to primarily validate the submandibular skinfold as an anthropometric measurement of cardiometabolic risk in children, adolescents, and adults with intellectual disabilities, using a cross-sectional study made up of 131 people (67.2% men) with mild and moderate intellectual disability. The cardiometabolic risk indicators used were: body mass index (kg/m2), neck circumference (cm), waist circumference (cm), calf circumference (cm) and waist-to-height ratio. Moderate correlations were demonstrated between the submandibular skinfold measure and the anthropometric measurements analyzed in the three age categories, showing the highest correlation (r = 0.70) between the submandibular skinfold and BMI in the adolescent group and waist-to-height ratio in adults. The implementation of the submandibular skinfold measurement is suggested as an easy, fast, and minimally invasive anthropometric measurement as part of the physical and nutritional evaluation for the assessment of cardiometabolic risk in people with intellectual disabilities.

La salud bucodental de escolares con retraso mental como prioridad del Sistema Nacional de Salud / The Oral Health of Mentally Retarded Schoolchildren as a Priority of the National Health System

El siglo xxi llega y se presenta con algo peculiar, el término calidad de vida no solo teñirá las intenciones y acciones de individuos que gozan de mayores posibilidades de elección, decisión y optan por una vida de mayor calidad, sino también de los servicios humanos, en general, que se verán obligados a adoptar técnicas para el mejoramiento de sus procedimientos. El Sistema Nacional de Salud ha alcanzado gran desarrollo en este sentido, pero la necesidad de perfeccionarlo ha requerido un cambio cualitativo en lo que se refiere a la atención médica y estomatológica primaria, a partir del reconocimiento del hombre como ser social y de su salud como un estado condicionado y determinado por los factores ambientales y sociales en los que él vive. Es prioridad del Sistema Nacional de Salud garantizar la salud a toda la población y brindar prioridad a las personas más vulnerables a las enfermedades, como son los pacientes discapacitados, y tiene como premisa que la salud es un derecho de todos los individuos y una responsabilidad del Estado.1 La salud bucodental es un componente de la salud general de las personas y es vital para un adecuado crecimiento y desarrollo del niño,1 debido a que las enfermedades bucales afectan diversos aspectos del vivir diario, como son la función masticatoria y fonoarticular, la apariencia física y las relaciones interpersonales y comprometen el bienestar biosocial y la calidad de vida.2) Estas enfermedades son prevenibles y relacionadas con problemas en el autocuidado de la salud oral.3 La necesidad de establecer hábitos y costumbres beneficiosas para la salud desde los primeros momentos de la vida es de interés, pues en esta etapa se forjan los cimientos que consolidan una calidad de vida superior y duradera. La discapacidad puede considerarse un fenómeno universal que se manifiesta en las personas en cualquier momento de su vida; y su definición no es obra terminada, coexisten diferentes maneras de enfocarla y, con frecuencia, no es aceptada por...(AU)

Clinical, Epidemiologic and Ethical Aspects of Hysterectomy in Young Females With Intellectual Disability: A Multi-Centre Study of Public Hospitals in Mexico City.

Background: Non-therapeutic hysterectomy has been performed to this day in Mexican women with intellectual disabilities (IDs), but the rationale for performing the procedure has been rarely submitted to clinical ethics committees. The objectives of the present research were to determine the frequency of hysterectomy and the clinical and epidemiologic characteristics that associated to the indication of hysterectomy in girls and young females with IDs and to analyse the emerging ethical issues related to the procedure. Materials and Methods: A medical chart review was conducted to identify female patients aged ≤ 25 years who had IDs based on anatomical pathologies and hospital records and underwent hysterectomy between January 2014 and December 2019 in nine high-concentration hospitals in Mexico City. Data were collected using a questionnaire developed ex professo and validated through a pilot study and analysed using the Statistical Package for the Social Sciences (SPSS) 21.0 software. Results: Information of 234 female patients with or without ID who were ≤ 25 years of age was reported by the departments of anatomical pathology and paediatrics. Of the patients, 184 (79%) were excluded because the information reported was found to be erroneous or incomplete during the medical records review. Most of the 50 emales included in the study had moderate ID (n = 23, 46%) followed by those with severe ID (n = 17, 34%). The mean age at hysterectomy was 15 ± 2.9 years. Prophylactic-total abdominal hysterectomy was the most frequently performed (n = 42, 84%). A concurrence was observed between the parental and medical reasons justifying hysterectomy. The most frequent reasons were fertility control (parents vs. physicians: 46 vs. 42%), management of menstrual hygiene (28 vs. 30%) and risk of sexual abuse (6 vs. 6%). Conclusion: This study showed that performing non-therapeutic hysterectomy is subject to the clinical judgement of physicians according to their perception of the patient's quality of life. Therefore, the ethical quality of the decision to perform the procedure in girls and young females resides in the ethical value of its consequences.

Caracterización de pacientes con enfermedades genéticas / Characterization of Patients with Genetic Diseases

Introducción: Las enfermedades genéticas se corresponden con variaciones genéticas del desarrollo que precisan ayuda médica, educativa, social o combinaciones de estas. Objetivo: Caracterizar clínica y epidemiológicamente a los pacientes con enfermedades genéticas. Método: Estudio descriptivo transversal. El universo estuvo constituido por los 521 pacientes evaluados en la consulta de asesoramiento genético del municipio Mayarí y la muestra estuvo representada por los 216 pacientes portadores de enfermedades genéticas pertenecientes al Policlínico Universitario 26 de Julio; del Área de Salud de Mayarí, durante el año 2018. Resultados: Predominó el sexo femenino (53,24 por ciento), el grupo de edades de 41 a 50 años (18,06 por ciento), las enfermedades monogénicas (58,8 por ciento), los pacientes con síndrome de Down (20,37 por ciento), los pacientes que no cuentan con antecedentes familiares (54,63por ciento). Conclusiones: Prevalecieron los pacientes con discapacidad mental, con diagnóstico posnatal y con más de 20 años de diagnóstico. El mayor número no realizaba tratamiento. Los pacientes vinculados integralmente a la sociedad resultaron minoría, así como los que tenían antecedentes familiares de enfermedad genética(AU)

Introduction: Genetic diseases are due to developmental genetic variations that require medical, educational and social help, or combinations of these. Objective: To characterize, clinically and epidemiologically, patients with genetic diseases. Method: Descriptive and cross-sectional study. The universe was made up of the 521 patients assessed in the genetic counseling consultation of Mayarí Municipality and the sample was represented by the 216 patients with genetic diseases belonging to 26 de Julio University Polyclinic of the health area of Mayarí, during the year 2018. Results: The female sex predominated (53.24 percent), together with the age group 41-50 years (18.06 percent), monogenic diseases (58.8 percent), patients with Down syndrome (20.37 percent), and patients with no family history of diseases (54.63 percent). Conclusions: Patients with mental disabilities, with postnatal diagnosis and with more than twenty years of diagnosis prevailed. The largest number did not undergo treatment. Patients fully linked to society were a minority, as well as those with a family history of genetic disease(AU)

The impact of the COVID-19 pandemic on the health, wellbeing, and access to services of people with intellectual and developmental disabilities.

BACKGROUND: Individuals with intellectual and developmental disabilities (IDD) may be especially vulnerable to changes associated with the COVID-19 pandemic given an increased likelihood of health concerns, low socioeconomic status, and difficulty accessing services. AIMS: The purpose of this study was to explore mental health problems and services in individuals with IDD during the pandemic. We explored whether number of mental health problems differed by disability, age, gender, living situation, physical health, and access to services. METHODS AND PROCEDURES: An online survey about experiences during the pandemic was administered to adults with IDD and their caregivers in the United States and in Chile. OUTCOMES AND RESULTS: In both Chile and the United States, few people endorsed increased health problems. Half of the sample in Chile and 41 % of the sample in the United States endorsed increased mental health problems. Approximately 15 % of the sample in the US reported no longer receiving state developmental disability services. CONCLUSIONS AND IMPLICATIONS: Healthcare and disability-specific agencies should consider strategies to tailor supports to improve mental health functioning and access to community.

Prevalence and Long-Term Outcomes of Solid Organ Transplant in Children with Intellectual Disability.

OBJECTIVES: To describe the prevalence and long-term outcomes of kidney, liver, and heart transplant for children with an intellectual disability. STUDY DESIGN: We performed a retrospective cohort analysis of children receiving a first kidney, liver, or heart-alone transplant in the United Network for Organ Sharing dataset from 2008 to 2017. Recipients with definite intellectual disability were compared with those possible/no intellectual disability. Kaplan-Meier survival estimates were calculated for graft and patient survival. Cox proportional hazard models were used to estimate the association between intellectual disability and graft and patient survival. RESULTS: Over the study period, children with definite intellectual disability accounted for 594 of 6747 (9%) first pediatric kidney-alone, 318 of 4566 (7%) first pediatric liver-alone, and 324 of 3722 (9%) first pediatric heart-alone transplant recipients. Intellectual disability was not significantly associated with patient or graft survival among liver and heart transplant recipients. Among kidney transplant recipients, definite intellectual disability was significantly associated with higher graft survival and lower patient survival, but the absolute differences were small. CONCLUSIONS: Children with intellectual disability account for 7%-9% of pediatric transplant recipients with comparable long-term outcomes to other pediatric recipients. These findings provide important empirical support for policies that include children with intellectual disability as transplant candidates.

Association between motor proficiency and oral health in people with intellectual disabilities.

BACKGROUND: People with intellectual disabilities (IDs) may be at increased risk of developing periodontal diseases and dental caries due to poor oral hygiene. Our aim was to investigate motor proficiency factors associated with presence of visible plaque and gingival bleeding in people with IDs. We were particularly interested in the level of dependence, manual coordination and fine manual control of people with ID, as well as the level of exhaustion of the primary caregiver. METHODS: In this cross-sectional study, 299 people with ID were evaluated for oral hygiene using the simplified Visible Plaque Index and for gum inflammation using the Gingival Bleeding Index. The Bruininks-Oseretsky Motor Proficiency Test assessed motor proficiency through fine manual control (fine motor integration and fine motor precision) and manual coordination (manual dexterity and upper limb coordination). The level of dependence was assessed by the Katz dependency index, and the caregiver was tested for exhaustion using the fatigue severity scale. Prevalence ratios [and 95% confidence intervals (CI)] were calculated using crude and adjusted Poisson regression with robust variance. RESULTS: The exhaustion of the caregiver was associated positively to visible plaque [prevalence ratio (PR) = 1.36; 95% CI 1.06-1.65]. For gingival bleeding, people with IDs that had better fine motor integration (PR = 0.49; 95% CI 0.33-0.75) and precision (PR = 0.50; 95% CI 0.26-0.94), as well as manual dexterity (PR = 0.62, 95% CI 0.49-0.77), presented better results. CONCLUSION: Poor oral hygiene and gum inflammation were associated with motor proficiency of people with IDs and caregivers' exhaustion. Interventions to improve the oral health of people with IDs should take into account such conditions.

Descripción clínica de pacientes pediátricos con enfermedades neuromusculares en una muestra de población chilena / Clinical description of pediatric patients with neuromuscular diseases in a Chilean population sample

OBJETIVO: Describir clínica y diagnóstico de 152 pacientes pediátricos asistentes al policlínico del Programa de Enfermedades Neuromusculares (ENM) en un centro terciario de la Región Metropolitana, Chile. METODOLOGÍA: Revisión de fichas programa EMN (2012-2016). RESULTADOS: 49% niñas, mediana de edad: 9 años (rango, 0­18), consultan por alteraciones de la marcha, debilidad e hipotonía. Segmentos más afectados son músculo y nervio periférico (92%). Diagnósticos más frecuentes son neuropatías adquiridas (26,1%), distrofias musculares (14,8%) y trastornos miotónicos (12,7%). Comorbilidades más frecuentes son patología traumatológica (23,2%) y discapacidad intelectual (13,4%). Los pacientes con patología hereditaria tienen mayor chance de requerir ventilación mecánica (OR 15,4; IC 95% 1,9­119,2) y presentar morbilidad traumatológica (OR 4,1; IC 1,03­16,4) que los con patología adquiridas. Confirmación genético-molecular en 38,4% de los pacientes con patología hereditaria. CONCLUSIONES: El conocimiento de características clínicas y posibilidades de estudio de las ENM puede mejorar las estrategias de atención.

INTRODUCTION: Neuromuscular diseases (NMS) represent a heterogeneous group of acquired and hereditary pathologies that affect the motor unit. There are few descriptive studies of patients with NMS in Chile and Latin America. OBJECTIVES: To clinically and epidemiologically characterize the pediatric population attending a polyclinic run using the NMS program of a hospital in the Metropolitan Region in Chile. Methodology: A review was made of database and clinical records of patients diagnosed with NMS between January 2012 and December 2016. RESULTS: A total of 142 patients, 51% of whom were male, with a median age 9 years (0-18 years), were included. The most frequent reasons for consultation were altered gait, decreased strength, and hypotonia. The most frequently affected segments were muscles and peripheral nerves (92% of the sample). The most frequent diagnoses were acquired neuropathies (26.1%), muscular dystrophies (14.8%), and myotonic disorders (12.7%). The most frequent comorbidities were traumatological pathologies (23.2%) and intellectual disabilities (13.4%). When comparing NMS with hereditary vs. acquired etiologies, those with hereditary etiologies had a higher risk of requiring mechanical ventilation (OR 15.4 [95%CI 1.9-119.2]) and having a traumatological disease (OR 4.1 [CI 1.03-16.4]) compared to those with acquired etiologies. For 38.4% of patients with hereditary etiologies, confirmation was obtained through molecular genetic testing. CONCLUSIONS: This study provides information on the frequency of NMS and their main comorbidities in a Chilean pediatric sample. These results provide information regarding current possibilities for studies and could aid in planning care for these patients in our country. Keywords: Neuromuscular disease, Muscular disease, Neuropathies, Neurological Diagnostic.

Inequities in diagnosis of Fragile X syndrome in Colombia.

BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and autism spectrum disorder (ASD). In Colombia, there are no screening or testing protocols established for the diagnosis of FXS. In this study, we aimed to describe the diagnostic trends of FXS in Colombia. METHODS: Data were included on 1322 individuals obtained based on data from the only 2 databases available. Sociodemographic information and data related to the diagnostic process were obtained and included in this study. RESULTS: The average age at the time of diagnosis for individuals with the full mutation (FM) was of 26.9 ± 2.57 years and was strongly dependent on sex and socioeconomic status. Most individuals with a molecular diagnosis were from the main cities. CONCLUSION: The overall age of diagnosis of FXS is later in life than reports from other countries. Restricted access to molecular testing through the national health system might explain this discrepancy in Colombia.

[Children and adolescents with intellectual disabilities studied with genetic tests according to their clinical phenotype]. / Estudio genético de acuerdo a características fenotípicas de niños y adolescentes con discapacidad intelectual de etiología indeterminada.

INTRODUCTION: Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in intellec tual and adaptive functioning, of various etiologies, including genetic causes. OBJECTIVE: to describe genetic studies carried out in a series of children and adolescents with ID of previously undetermined etiology, considering their phenotypic characteristics. PATIENTS AND METHOD: Descriptive study of a series of patients with ID aged 6 to 18 years. Clinical records, cognitive assessment results (Wechsler -TADI), and genetic study performed were reviewed. They were classified according to phenotypic characteristics into Group 1 patients without a specific phenotype, Group 2: patients with Angel- man- and Rett-like neurodevelopmental disorders phenotype, and Group 3: patients with difficult- to-control seizures. Group 1 was studied with CMA and Groups 2 and 3 with specific genetic panels. RESULTS: 18 patients were described, average age 11 years, male predominance, non-consanguineous parents, and with history of psychomotor retardation. Common comorbidities were epilepsy, autism spectrum disorder (ASD), and behavioral difficulties. Most had a neurological examination without focus and had TADI with very poor developmental ages. In Group 1, there was one patient with a 16p11.2 microdeletion and in Group 3 a duplication of the IQSEC2 gene was found in a patient with difficult-to-control seizures. CONCLUSIONS: The phenotypic characteristics allow to guide the choice of specific genetic studies in children and adolescents with ID of previously undetermined etiology to approach the etiological diagnosis.

Etiology of intellectual disability in individuals from special education schools in the south of Brazil.

BACKGROUND: Intellectual Disability (ID) is characterized by significant limitations that affect intellectual functioning, adaptive behavior, and practical skills which directly interfere with interpersonal relationships and the environment. In Western countries, individuals with ID are overrepresented in the health system, often due to associated comorbidities, and its life-time cost places ID as one of the most expensive conditions of all diagnoses in the International Classification of Diseases. Most of the people affected (75%) live in low-income countries, suffer from malnutrition, lack health care, and do not have access to adequate treatment. The aim of this study was to obtain an estimate of the diagnostic status as well as the prevalence of familial ID among individuals with serious (moderate or severe) ID in a region of the State of Santa Catarina, investigating attendees of special education schools of the Florianópolis Macroregion. METHODS: This was a cross-sectional study conducted between August 2011 and August 2014, through a semi-structured screening questionnaire for the collection of relevant developmental, clinical, familial and educational data, applied in an interview to guardians of students of special education schools of the macroregion of Florianópolis. RESULTS: The participant special schools enrolled close to 1700 students during the study period and the questionnaire was applied to 849 (50.5%). The male to female ratio of the participants was 1.39:1. Clear etiologic explanations were relatively scarce (24%); most diagnoses referring only to the type and the degree of impairment and for the majority (61.4%) the cause was unknown. About half were sporadic cases within their families (considering three generations). For 44.2% at least one other case of an ID-related condition in the extended family was mentioned, with 293 (34.5%) representing potential familial cases. CONCLUSION: Here we describe the epidemiological profile, the available diagnostics, etiology, family history and possible parental consanguinity of participants with ID of special education schools in the South of Brazil. The main results show the need for etiological diagnosis and uncover the relevance of potential hereditary cases in a population where consanguineous unions have a relatively low frequency (0,6%) and highlight the need for public health actions.

[Open communication between mental health professionals and parents of patients with intellectual disabilities]. / Comunicación abierta entre profesionales de la salud mental y padres de pacientes con discapacidad intelectual.

OBJECTIVE: To estimate the factors associated with open communication between mental health professionals and parents of patients with intellectual disabilities and other neurodevelopmental disorders. MATERIALS AND METHODS: Cross-sectional survey in 759 mental health professionals. The association between the pattern of open communication and the attributes of communication was estimated through a logistic, ordinal, multivariate model. RESULTS: The prevalence of the pattern of open communication in mental health professionals was 30.6% (95%CI 27.4-34.0). The associated factors were younger age (RM=2.42, 95% CI 1.57-3.75), specialty (RM= 1.56, 95%CI 1.09-2.23), high value to the truth (RM= 4.95, 95% CI 3.21-7.65), low paternalism (RM= 10.93, 95%CI 7.22-16.52) and courses in bioethics (RM= 1.45, 95%CI 1.01-2.09), adjusted for confusing variables. CONCLUSIONS: Mental health professionals reported low levels of open com-munication with parents of people with neurovelopmental disorders, so prioritizing the value to the truth, promoting less paternalism, and respecting the autonomy of patients, can contribute to changing these patterns of communication in clinical practice in Mexico.

OBJETIVO: Estimar los factores asociados con la comunicación abierta entre profesionales de la salud mental y padres de pacientes con discapacidad intelectual y otros trastornos del neurodesarrollo. MATERIAL Y MÉTODOS: Encuesta transversal en 759 profesionales de la salud mental. Se estimó la asociación entre el patrón de comunicación abierto y los atributos de la comunicación a través de un modelo logísti-co, ordinal y multivariado. RESULTADOS: La prevalencia del patrón de comunicación abierta en profesionales de la salud mental fue de 30.6% (IC95% 27.4-34.0). Los factores asocia-dos fueron menor edad (RM=2.42, IC95% 1.57-3.75), espe-cialidad (RM=1.56, IC95% 1.09-2.23), alto valor a la verdad (RM=4.95, IC95% 3.21-7.65), bajo paternalismo (RM=10.93, IC95% 7.22-16.52) y cursos de bioética (RM=1.45, IC95% 1.01-2.09), ajustando por variables confusoras. CONCLUSIONES: Los profesionales de la salud mental reportaron bajos niveles de comunicación abierta con los padres de personas con trastornos del neurodesarrollo, por lo que priorizar el valor a la verdad, promover un menor paternalismo y el respeto a la autonomía de los pacientes puede contribuir a cambiar estos patrones de comunicación en la práctica clínica en México.

Comunicación abierta entre profesionales de la salud mental y padres de pacientes con discapacidad intelectual / Open communication between mental health professionals and parents of patients with intellectual disabilities

Resumen Objetivo: Estimar los factores asociados con la comunicación abierta entre profesionales de la salud mental y padres de pacientes con discapacidad intelectual y otros trastornos del neurodesarrollo. Material y métodos: Encuesta transversal en 759 profesionales de la salud mental. Se estimó la asociación entre el patrón de comunicación abierto y los atributos de la comunicación a través de un modelo logístico, ordinal y multivariado. Resultados: La prevalencia del patrón de comunicación abierta en profesionales de la salud mental fue de 30.6% (IC95% 27.4-34.0). Los factores asociados fueron menor edad (RM=2.42, IC95% 1.57-3.75), especialidad (RM=1.56, IC95% 1.09-2.23), alto valor a la verdad (RM=4.95, IC95% 3.21-7.65), bajo paternalismo (RM=10.93, IC95% 7.22-16.52) y cursos de bioética (RM=1.45, IC95% 1.01-2.09), ajustando por variables confusoras. Conclusión: Los profesionales de la salud mental reportaron bajos niveles de comunicación abierta con los padres de personas con trastornos del neurodesarrollo, por lo que priorizar el valor a la verdad, promover un menor paternalismo y el respeto a la autonomía de los pacientes puede contribuir a cambiar estos patrones de comunicación en la práctica clínica en México.

Abstract Objective: To estimate the factors associated with open communication between mental health professionals and parents of patients with intellectual disabilities and other neurodevelopmental disorders. Materials and methods: Cross-sectional survey in 759 mental health professionals. The association between the pattern of open communication and the attributes of communication was estimated through a logistic, ordinal, multivariate model. Results: The prevalence of the pattern of open communication in mental health professionals was 30.6% (95%CI 27.4-34.0). The associated factors were younger age (RM=2.42, 95% CI 1.57-3.75), specialty (RM= 1.56, 95%CI 1.09-2.23), high value to the truth (RM= 4.95, 95% CI 3.21-7.65), low paternalism (RM= 10.93, 95%CI 7.22-16.52) and courses in bioethics (RM= 1.45, 95%CI 1.01-2.09), adjusted for confusing variables. Conclusion: Mental health professionals reported low levels of open communication with parents of people with neurovelopmental disorders, so prioritizing the value to the truth, promoting less paternalism, and respecting the autonomy of patients, can contribute to changing these patterns of communication in clinical practice in Mexico.

Ecuadorian mothers of preschool children with and without intellectual disabilities: Individual and family dimensions.

BACKGROUND: Approximately 71,454 children younger than 5 years old have a disability in Ecuador. AIMS: Our objective was to compare and relate family cohesion, adaptability, coping, perceived stress, and control with family satisfaction of Ecuadorian mothers of preschool children with and without intellectual disabilities (ID). METHOD: Participants were 384 Ecuadorian mothers: 111 had a child with ID and 273had a child without ID. The FACES II, Family Satisfaction Scale and Moos Coping Response Inventory were used. RESULTS: No significant differences were found between mothers of children with and without intellectual disabilities on their perceptions of family cohesion, adaptability or family satisfaction. Mothers of children with ID perceived less stress and more control over their children and adopted more approach coping strategies compared to mothers of children without ID. The mothers 'family satisfaction was positively related to approach coping strategies and to family cohesion and adaptability, and negatively related to avoidant coping strategies-regardless of whether their children had a disability or not. CONCLUSIONS AND IMPLICATIONS: These data are in accordance with an adaptive approach to disability and emphasise the capacity of individuals and families to cope.

Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome.

Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism mostly causing multisystem disease. In 2013, biallelic mutations in the GMPPA gene were described in association with one such CDG known as alacrima, achalasia, and mental retardation syndrome (AAMR). To date, 18 patients have been reported, nearly all displaying the same pathognomonic triad of symptoms described in the name. This condition shares considerable phenotypic overlap with Triple-A syndrome caused by biallelic mutations in the AAAS gene; however, AAMR lacks the characteristic adrenocortical findings associated with Triple-A syndrome. We report three patients from two unrelated families with the same homozygous GMPPA mutation (c.265dup, p.L89fs). Notably, both families reported indigenous Maya-Mam heritage and originated from the town of Concepción Chiquirichapa in Quezaltenango, Guatemala. Our cases help to expand the AAMR phenotype by outlining dysmorphic features not well described in the prior cases. Additionally, we encourage all providers with patients presenting with this unique triad of symptoms to consider sequencing of the GMPPA gene. Special consideration should be given to families of Guatemalan Maya-Mam ancestry who may also have this identified founder mutation. Finally, this condition may indeed be underdiagnosed based on a review of the literature.

Risk of Hospitalizations Following Gastrostomy in Children with Intellectual Disability.

OBJECTIVE: To examine the frequency of hospital admissions before and after gastrostomy insertion in children with severe intellectual disability. STUDY DESIGN: We conducted a retrospective cohort study using linked health administrative and disability data from Western Australia (WA) and New South Wales (NSW). Children born between 1983 and 2009 in WA and 2002 and 2010 in NSW who had a gastrostomy insertion performed (n = 673 [WA, n = 325; NSW, n = 348]) by the end of 2014 (WA) and 2015 (NSW) were included. Conditional Poisson regression models were used to evaluate the age-adjusted effect of gastrostomy insertion on acute hospitalizations for all-cause, acute lower respiratory tract infections (LRTI), and epilepsy admissions. RESULTS: The incidence of all-cause hospitalizations declined at 5 years after procedure (WA cohort 1983-2009: incidence rate ratio, 0.70 [95% CI, 0.60-0.80]; WA and NSW cohort 2002-2010: incidence rate ratio, 0.63 [95% CI, 0.45-0.86]). Admissions for acute LRTI increased in the WA cohort and remained similar in the combined cohort. Admissions for epilepsy decreased 4 years after gastrostomy in the WA cohort and were generally lower in the combined cohort. Fundoplication seemed to decrease the relative incidence of acute LRTI admissions in the combined cohort. CONCLUSIONS: Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI. These decreases in hospitalizations may reflect improved delivery of nutrition and medications.

Necesidad de tratamiento estomatológico en niños de la Escuela Especial Jardín de La Alegría, 2016 / Need for stomatological treatment in children of the Special School Jardín de La Alegría, 2016

RESUMEN Introducción: La salud bucal del paciente discapacitado intelectual ha sido una gran preocupación a nivel mundial. Cuba no se escapa de ello, por lo que ha implementado programas que priorizan a este tipo de individuos. Objetivo: Determinar la necesidad de tratamiento estomatológico de los pacientes con discapacidad intelectual según la categoría diagnóstica de la Escuela Especial Jardín de la Alegría. Métodos: Estudio descriptivo transversal realizado en el período comprendido entre 2016-2017. El universo de estudio estuvo constituido por 105 niños que representa la matrícula total de la escuela. El examen clínico de los escolares se realizó en el sillón dental. Para la recolección de la información se confeccionó una planilla encuesta teniendo en cuenta las características del grupo objeto de estudio: edad, sexo, categoría diagnóstica, índice COP-D y ceo-d, índice de necesidad de tratamiento periodontal comunitario, y la higiene bucal mediante el índice de higiene bucal simplificado de Greene y Vermillon. Resultados: La categoría diagnóstica que prevaleció fue el discapacitado intelectual leve con 82,8 por ciento. El 68,6 por ciento de la población estudiada presentó higiene bucal regular. El 67,6 por ciento de los niños presentó enfermedad periodontal, el 59,0 por ciento maloclusión y el 54,2 por ciento caries dental. Según necesidad de tratamiento, el 67,0 por ciento requiere tratamiento periodontal, el 59,0 por ciento tratamiento ortodóncico y el 45,7 por ciento tratamiento conservador. Conclusiones: Existió una alta necesidad de tratamiento periodontal en los individuos con discapacidad intelectual leve(AU)

ABSTRACT Introduction: The oral health of the intellectually disabled patient has been a great concern worldwide. Cuba does not escape this concern by implementing programs that prioritize this type of individuals. Objective: To determine the need for stomatological treatment of patients with intellectual disability according to the diagnostic category of the Jardín de la Alegría Special School. Methods: a cross-sectional descriptive study conducted in the period 2016-2017. The clinical examination of the students was carried out in the dental chair. For the collection of the information a survey form was made taking into account the characteristics of the group under study: age, sex, diagnostic category, COP-D index and ceo-d, index of need for community periodontal treatment, and oral hygiene using the simplified oral hygiene index of Greene and Vermillon. The universe of study was constituted by 105 children that represents the total enrollment of the school. Results: the diagnostic category that prevailed was the mild intellectual disability with 82.8. 68.6 percent of the studied population presented regular oral hygiene. 67.6 percent of the children presented periodontal disease, 59.0 percent malocclusion and 54.2 percent dental caries. According to need of treatment, 67 percent need periodontal treatment, 59.0 percent orthodontic treatment and 45.7 percent need conservative treatment. Conclusions: there was a high need for periodontal treatment in individuals with mild intellectual disability(AU)