Poor mobility and lower limb weakness are associated with three distinct depressive symptom trajectories over 6 years in older people.

OBJECTIVES: Physical decline can be associated with the onset of depressive symptoms in later life. This study aimed to identify physical and lifestyle risk factors for depressive symptom trajectories in community-dwelling older adults. METHODS: Participants were 553 people aged 70-90 years who underwent baseline physical, psychological and lifestyle assessments. Group-based trajectory analysis was used to identify patterns of depressive symptom development over 6 years of follow-up. Strengths of associations between baseline functional test performances and depressive symptom trajectories were evaluated with univariable ordinal models. Subsequently, the adjusted cumulative odds ratio for the association between identified risk factors, demographic factors and baseline anti-depressant use were measured using multivariable ordinal logistic regression. RESULTS: Three distinct depressive symptom trajectories were identified: a low-and-stable course (10% of participants), a low-and-increasing course (81%) and a moderate-and-increasing course (9%). Timed Up and Go test time was the strongest risk factor of depressive symptom trajectory, followed by Five Times Sit-to-Stand test performance, planned physical activity levels, and knee extension strength (adjusted standardised ORs 1.65, 95% CI 1.34-2.04; 1.44, 95% CI 1.16-1.77; 1.44, 95% CI 1.17-1.76 and 1.41, 95% CI 1.15-1.73 respectively). After adjusting for age, sex, body mass index and baseline anti-depressant use, Timed Up and Go test performance and knee extension strength were independently and significantly associated with depressive trajectories. CONCLUSIONS: Timed Up and Go test times, Five Times Sit-to-Stand test performance, planned physical activity levels and knee extension strength are associated with three discrete depressive symptom trajectories. These clinical tests may help identify older adults aged 70-90 years at risk of developing depressive symptoms and help guide subsequent strength and mobility interventions.

Persistencia del cavum septum pellucidum y cavum vergae asociado a retraso psicomotor. Informe de caso

Fundamento: Dos de las tres formas en que se presentan los quistes intracraneales de la línea media anterior son: cavum septum pellucidum y cavum vergae; estos normalmente desaparecen después del nacimiento, de persistir suelen ser asintomáticos, pero también pueden estar asociados a manifestaciones obstructivas, trastornos psicóticos o alteraciones del neurodesarrollo que demandan de un seguimiento clínico. Objetivo: Reportar el caso de un paciente de 6 meses con persistencia de estructuras del periodo embrionario en posible asociación con retraso del desarrollo psicomotor. Presentación de caso: Por lo infrecuente que resulta en la práctica, se informa el caso de un paciente de 6 meses con una persistencia del cavum septum pellucidum y cavum vergae en el que se destaca la posible asociación del retraso del neurodesarrollo a la persistencia de estas estructuras. El diagnóstico se realizó de forma precoz y se intervino oportunamente. Conclusiones: La presentación del caso aportó evidencias epidemiológicas que favorecen la posible asociación entre la persistencia de estas estructuras embrionarias y el retraso del desarrollo psicomotor.

Background: Two out of the three forms in which intracranial anterior midline cysts present are: These usually disappear after birth; if they persist, they are often asymptomatic, but may also be associated with obstructive manifestations, psychotic disorders or neurodevelopmental disorders that require clinical follow up. Objective: To report a case of a 6-month-old patient with persistence of embryonic period structures in possible association with psychomotor developmental retardation. Case presentation: Because of how infrequent it is in practice, a case of a 6-month-old patient with a persistent cavum septum pellucidum and cavum vergae is reported in which the possible association of neurodevelopmental delay with the persistence of these structures is pointed out. The diagnosis was made in an early manner and it was timely intervened. Conclusions: The case presentation provided epidemiological evidences that encourage the possible association among the persistence of these embryonic structures and psychomotor developmental retardation.

Incidence of Cerebral Palsy, Risk Factors, and Neuroimaging in Northeast Mexico.

BACKGROUND: Cerebral palsy (CP) comprises a group of lifelong motor and postural development disorders that can cause static motor encephalopathy. The etiology of CP is attributed to nonprogressive lesions of the central nervous system during fetal or infant brain development. A diagnosis of CP is based on a combination of clinical and neurological signs, typically identified between 12 and 24 months. A medical history, several available standardized tools, including the Neoneuro assessment, and the Hammersmith infant neurological examination (HINE) can be used to predict risk. Magnetic resonance imaging (MRI) can contribute to the diagnosis of CP. The incidence of CP is 2 to 3 per 1000 live births, and in Western industrialized nations, it is 2.0-2.5 per 1000 live births; to our knowledge, no epidemiological studies have reported the incidence of CP in Mexico. AIM: To assess the incidence of CP in children aged up to 18 months in northeast Mexico and analyze the risk factors and neuroimaging findings. METHODS: This was a multicenter, randomized, prospective, cohort, analytical study of newborn children in three community hospitals and an early intervention and CP center in Nuevo Leon, Mexico, from 2017 to 2021. This study included 3861 newborns randomly selected from a population of 75,951 mothers in the immediate puerperium. According to the Neoneuro tool, high-risk children (n = 432) had abnormal neurological results at birth; they were followed and assessed with the Spanish version of the HINE test by a pediatric neurologist and underwent neuroimaging studies. Neonates with normal results were randomly selected to be in the low-risk group (n= 864). These neonates were followed and assessed with the HINE by a neonatologist. RESULTS: The incidence of CP was 4.4 of 1000 up to 18 months old, which was higher than that reported in developed countries. Perinatal risk factors were predominantly recognized in the etiology of CP, such as brain hemorrhage, and prematurity, in addition to congenital anomalies. The most frequent neuroimaging findings were ventricular dilation/cortical atrophy and intraventricular/subependymal hemorrhage and periventricular leukomalacia on MRI. CONCLUSIONS: This study is the first on the incidence/prevalence of CP in Mexico, and there are no formal studies in this field in other Latin American countries either. The incidence of CP in northeast Mexico is higher than that reported in developed countries. The follow-up of high-risk young children must be reinforced in the Mexican population, as children with disabilities have high and sequential health-care needs and may usually be lost to follow-up. Neuroimaging of PVL was the more frequent finding by MRI in this population.

Atención temprana a niños con retardo del desarrollo psicomotor / Early care for children with delayed psychomotor development / Cuidados precoces para crianças com desenvolvimento psicomotor atrasado

RESUMEN Introducción: los programas de Atención Temprana son favorecedores del neurodesarrollo y resultan altamente eficaces en su conjunto para los niños con trastornos en el desarrollo. Objetivo: determinar factores epidemiológicos y clínico-terapéuticos en niños con retardo del desarrollo psicomotor tratados en consulta de Atención Temprana del policlínico Jimmy Hirzel, Bayamo, Granma, durante 2018-2019. Métodos: se realizó un estudio epidemiológico observacional descriptivo, longitudinal, que incluyó a 88 niños diagnosticados con retardo del desarrollo psicomotor y tratados en la consulta de Atención Temprana del policlínico Jimmy Hirzel, Bayamo, Granma, durante 2018-2019. Variables estudiadas: edad en el momento del diagnóstico en la consulta de Atención Temprana, sexo, procedencia, factores de riesgo perinatal y evolución a los 12 meses del diagnóstico e inicio del tratamiento rehabilitador. Se empleó la estadística descriptiva para el procesamiento de los datos. Resultados: predominaron los niños diagnosticados entre los 6 meses y 11 meses y 29 días (52.3%), del sexo femenino (65,9%) y procedencia urbana (69,3%). El 82.9 % presentó factores de riesgo perinatal, con predominio del bajo peso al nacer y las infecciones perinatales. El 90.9% evolucionó favorablemente, destacando los diagnosticados entre 6 y 11 meses y 29 días, y los que no tuvieron o tuvieron uno o dos factores de riesgo perinatal. Conclusiones: la mayoría de los niños estudiados fueron diagnosticados en consulta de Atención Temprana entre los seis y doce meses de edad, presentaron uno o dos factores de riesgo perinatal (siendo el más frecuente el bajo peso al nacer), y evolucionaron favorablemente.

ABSTRACT Introduction: Early Care programs are pro-developmental and highly effective as a whole for children with developmental disorders. Objective: to determine epidemiological and clinical-therapeutic factors in children with psychomotor development delay treated in the Early Care consultation of the Jimmy Hirzel Polyclinic, Bayamo, Granma, during 2018-2019. Methods: a descriptive, longitudinal observational epidemiological study was conducted, which included 88 children diagnosed with psychomotor developmental delay and treated in the Early Care consultation of the Jimmy Hirzel Polyclinic, Bayamo, Granma, during 2018-2019. Variables studied: age at the time of diagnosis in the Early Care consultation, sex, origin, perinatal risk factors and evolution at 12 months of diagnosis and initiation of rehabilitative treatment. Descriptive statistics were used for data processing. Results: children diagnosed between 6 months and 11 months and 29 days (52.3%), female (65.9%) and urban origin (69.3%) predominated. 82.9% presented perinatal risk factors, with a predominance of low birth weight and perinatal infections. 90.9% evolved favorably, highlighting those diagnosed between 6 and 11 months and 29 days, and those who did not have or had one or two perinatal risk factors. Conclusions: most of the children studied were diagnosed in the Early Care consultation between six and twelve months of age, presented one or two perinatal risk factors (the most frequent being low birth weight), and evolved favorably.

RESUMO Introdução: Os programas de Atenção Precocesão pró-desenvolvimento e altamente eficazes como um todo para crianças com transtornos do desenvolvimento. Objetivo: determinar fatores epidemiológicos e clínico-terapêuticos em crianças com atraso no desenvolvimento psicomotor tratado na consulta de Atenção Precoce da Policlínica Jimmy Hirzel, Bayamo, Granma, durante 2018-2019. Métodos: foi realizado um estudo epidemiológico observacional descritivo e longitudinal, que incluiu 88 crianças diagnosticadas com atraso no desenvolvimento psicomotor e tratadas na consulta de Cuidados Precoces da Policlínica Jimmy Hirzel, Bayamo, Granma, durante 2018-2019. Variáveis estudadas: idade no momento do diagnóstico na consulta de Atenção Precoce, sexo, origem, fatores de risco perinatais e evolução aos 12 meses de diagnóstico e início do tratamento reabilitatório. Foram utilizadas estatísticas descritivas para o processamento de dados. Resultados: predominaram as crianças diagnosticadas entre 6 meses e 11 meses e 29 dias (52,3%), do sexo feminino (65,9%) e da origem urbana (69,3%). 82,9% apresentaram fatores de risco perinatais, com predominância de baixo peso ao nascer e infecções perinatais. 90,9% evoluíram favoravelmente, destacando aqueles diagnosticados entre 6 e 11 meses e 29 dias, e aqueles que não tinham ou tinham um ou dois fatores de risco perinatais. Conclusões: a maioria das crianças estudadas foi diagnosticada na consulta de Atenção Precoce entre seis e doze meses de idade, apresentou um ou dois fatores de risco perinatais (sendo o mais frequente o baixo peso ao nascer) e evoluiu favoravelmente.

Rethinking Parkinson Disease: Exploring Gut-Brain Interactions and the Potential Role of Exercise.

Although Parkinson disease (PD) has traditionally been considered a disease of the central nervous system, a bidirectional communication system known as the gut-brain axis can influence PD pathogenesis. The dual-hit hypothesis proposed that PD is due to peripheral dysregulations to the gut microbiota, known as dysbiosis. Since then, further investigation has shown that there are multiple pathological sources associated with PD. However, dysbiosis plays a critical role in the disease process. Substantial evidence has identified that cardinal motor symptoms of PD and disease progression are associated with dysbiosis. In other neurodegenerative disorders, dysbiosis has been linked to cognition. Non-PD research has shown that exercise can effectively restore the gut microbiota. Likewise, exercise has become a well-established strategy to improve cognitive and motor function in PD. However, despite the interaction between the gut and brain, and the exercise benefits on gut health, no research to date has considered the effects of exercise on the gut microbiota in PD. Therefore, the purpose of this Perspective is to explore whether exercise benefits observed in PD could partly be due to restorations to the gut microbiota. First, we will review the gut-brain axis and its influence on motor and cognitive function. Next, we will outline evidence regarding exercise-induced restoration of the gut microbiota in non-PD populations. Finally, we will summarize benefits of exercise on motor-cognitive function in PD, proposing that benefits of exercise seen in PD might actually be due to restorations to the gut microbiota. By positing the gut microbiota as a moderator of exercise improvements to motor and cognitive function, we aim to provide a new perspective for physical therapists to prioritize exercise regimens for individuals with PD that can specifically restore the gut microbiota to better improve PD symptoms and prognosis. IMPACT: This Perspective raises awareness that dysregulations to the gut microbiota have recently been attributed to PD symptoms and pathology and that exercise can be an effective therapeutic strategy to improve gut health in individuals with PD. LAY SUMMARY: People with PD have been found to have reduced microbial diversity in their gut, which can play an important role in the progression of the disease. Physical therapists can design therapeutic exercises that might help improve gut health in people with PD.

House Dust Avoidance during Pregnancy and Subsequent Infant Development: The Japan Environment and Children's Study.

House dust, well known for causing allergy, contains chemicals that are harmful to fetal neurodevelopment. However, whether countermeasures for house dust allergy, such as frequent use of vacuum cleaners, frequent airing of futons, and the usage of anti-mite covers during pregnancy, are related to subsequent reduced risk of infant developmental delay remains unknown. Therefore, we examined this association by analyzing 81,106 mother-infant pairs who participated in a nationwide birth cohort in Japan. Infant developmental delays at 6 and 12 months postpartum were assessed using the Ages and Stages Questionnaire, Third Edition. A generalized linear model analysis was used to derive adjusted odds ratios (AORs) with the lowest care frequency as reference, while controlling 22 covariates. Our analysis showed that the above-mentioned cleaning measures were overall associated with a reduced risk of developmental delays, both at 6 and 12 months postpartum (AOR varied from 0.73 to 0.95, median: 0.84). Additionally, risks tended to decrease with an increase in the cleaning frequency. In conclusion, a negative dose-response association existed between these measures during pregnancy and infant developmental delay. Our results identify a potential role of frequent vacuum cleaning, airing bedding, and usage of anti-mite bedding covers in promoting intact infant development.

Evaluación del desarrollo infantil en niños menores de 1 año en una unidad médica / Evaluation of child development in children under 1 year in a medical unita

Introducción: el desarrollo psicomotor es un fenómeno de adquisición continua y progresiva de habilidades a lo largo de la infancia, afectado por la herencia genética y factores psicosociales y biológicos. Objetivo: evaluar el desarrollo infantil en niños menores de 1 año mediante la prueba Evaluación del Desarrollo Infantil en una unidad de medicina familiar. Metodología: estudio descriptivo con 62 niños menores de 1 año, en el módulo de PREVENIMSS, de octubre de 2018 a octubre de 2019. Se realizó un muestreo no probabilístico. Para el análisis de los datos se utilizó estadística descriptiva (media, desviación estándar, frecuencias y porcentajes); el análisis inferencial se realizó mediante la prueba de ji al cuadrado, considerando como significancia estadística p < 0.05. Resultados: el 42% (26) fueron niños y el 58% (36) niñas. En el resultado global, el 68% (42) obtuvieron desarrollo normal, el 29% (18) rezago en el desarrollo y el 3% (2) riesgo de retraso en el desarrollo. Las áreas del desarrollo afectadas fueron motricidad fina y lenguaje. Conclusiones: es necesario implementar estrategias institucionales para que se cumplan las políticas públicas de la primera infancia y que todos los niños derechohabientes del Instituto Mexicano del Seguro Social cuenten con evaluaciones periódicas de su desarrollo.

Introduction: Psychomotor development is a phenomenon of continuous and progressive acquirement of skills throughout childhood, affected by genetic inheritance and psychosocial and biological factors. Objective: To evaluate child development to children under 1 year old, through the Child Development Assessment test in a family medicine unit. Methods: Descriptive study in 62 children under 1 year of age, in the PREVENIMSS module, from October 2018 to October 2019. A non-probability sampling was carried out. Descriptive statistics (mean, standard deviation, frequencies and percentages) were used for data analysis, inferential analysis was performed using Chi Square, statistical significance of p < 0.05. Results: 42% (26) were men and 58% (36) women. In the overall result: 68% (42) obtained normal development, 29% (18) lag in development and 3% (2) risk of delay in development. The developmental areas affected were fine motor skills and language. Conclusions: It is necessary to implement institutional strategies so that early childhood public policies are complied with and that all IMSS eligible children have periodic evaluations of their development.

Caracterización de pacientes ingresados en consulta de atención temprana. Policlínico Jimmy Hirzel, 2018 / Characterization of patients admitted to early care consultation. Jimmy Hirzel Polyclinic, 2018 / Caracterização dos pacientes admitidos na consulta de atenção precoce. Jimmy Hirzel Polyclinic, 2018

RESUMEN La Atención Tempana(AT) reduce los efectos de las discapacidades o de los factores de riesgo y optimiza, en la medida de lo posible, el curso del desarrollo del niño. Se realizó un estudio observacional descriptivo de corte transversal para caracterizar a los niños que recibieron tratamiento rehabilitador en la consulta de AT del policlínico Jimmy Hirzel, durante el año 2018. El universo estuvo constituido por 1560 casos atendidos en la consulta durante ese periodo y la muestra la conformaron los 199 casos ingresados para tratamiento en el Servicio de Rehabilitación Integral. Los datos fueron tomados de la base de datos de los registros estadísticos del centro y de las historias clínicas individuales. Se emplearon como medidas de resumen, de la estadística descriptiva, las frecuencias absolutas y relativas. Como resultados principales,el 44,2% de los casos fue remitido por retardo del desarrollo psicomotor, siendo más frecuentes los niños menores de seis meses de edad (38,7%), del sexo femenino (53,8%), con antecedentes perinatales positivos (83,9%) y del área urbana Jesús Menéndez(46,7%). La evolución fue favorable en la mayoría de los casos.

ABSTRACT Early Attention (TA) reduces the effects of disabilities or risk factors and optimizes, as far as possible, the course of the child's development. A descriptive cross-sectional observational study was conducted to characterize children who They received rehabilitative treatment in the AT clinic of the Jimmy Hirzel polyclinic during 2018.The universe consisted of 1,560 cases attended in the clinic during that period and the sample was made up of 199 cases admitted for treatment at the Comprehensive Rehabilitation Service. The data was taken from the database of the statistical records of the center and from the individual medical records. Absolute and relative frequencies were used as summary measures of descriptive statistics. As main results, 44.2% of the cases were referred for retardation of psychomotor development, being more frequent the children younger than six months of age (38.7%), of the female sex (53.8%), with a history positive perinatals (83.9%) and Jesús Menéndez urban area (46.7%). The evolution was favorable in most cases.

RESUMO A Atenção Precoce (AT) reduz os efeitos de incapacidades ou fatores de risco e otimiza, na medida do possível, o curso do desenvolvimento da criança. Um estudo observacional transversal descritivo foi conduzido para caracterizar crianças que Eles receberam tratamento reabilitador na consulta AT da policlínica Jimmy Hirzel, durante o ano de 2018. O universo consistiu em 1560 casos atendidos na consulta durante esse período e a amostra foi composta por 199 casos admitidos para tratamento no Serviço de Reabilitação Integral. Os dados foram coletados do banco de dados dos registros estatísticos do centro e dos registros médicos individuais. Frequências absolutas e relativas foram usadas como medidas resumidas da estatística descritiva. Como principais resultados, 44,2% dos casos foram encaminhados para retardo do desenvolvimento psicomotor, sendo mais frequentes as crianças menores de seis meses (38,7%), do sexo feminino (53,8%), com histórico perinatais positivos (83,9%) e área urbana de Jesús Menéndez (46,7%). A evolução foi favorável na maioria dos casos.

Principles of Electrophysiological Assessments for Movement Disorders.

Electrophysiological studies can provide objective and quantifiable assessments of movement disorders. They are useful in the diagnosis of hyperkinetic movement disorders, particularly tremors and myoclonus. The most commonly used measures are surface electromyography (sEMG), electroencephalography (EEG) and accelerometry. Frequency and coherence analyses of sEMG signals may reveal the nature of tremors and the source of the tremors. The effects of voluntary tapping, ballistic movements and weighting of the limbs can help to distinguish between organic and functional tremors. The presence of Bereitschafts-potentials and beta-band desynchronization recorded by EEG before movement onset provide strong evidence for functional movement disorders. EMG burst durations, distributions and muscle recruitment orders may identify and classify myoclonus to cortical, subcortical or spinal origins and help in the diagnosis of functional myoclonus. Organic and functional cervical dystonia can potentially be distinguished by EMG power spectral analysis. Several reflex circuits, such as the long latency reflex, blink reflex and startle reflex, can be elicited with different types of external stimuli and are useful in the assessment of myoclonus, excessive startle and stiff person syndrome. However, limitations of the tests should be recognized, and the results should be interpreted together with clinical observations.

Effect of Dog-Assisted Therapy on Psychomotor Development of Children with Intellectual Disability.

BACKGROUND: Although dog-assisted therapy (DAT) has been used for years, there is still a scarcity of research findings confirming efficacy of the method. The current study was designed to assess effects of DAT on psychomotor development of children with mild intellectual disabilities. MATERIAL AND METHOD: The study involved 60 children with mild intellectual disabilities, aged 10-13 years, divided into a group participating in a 10-month DAT program, and the control group. Four tests were applied, i.e., finger identification, postural imitation, kinaesthesia, and Bourdon-Wiersma Dot Cancellation Test. The examinations were carried out before the start and at the end of the DAT, and at a two-month follow-up. RESULTS: The results obtained by the DAT group in all the four tests, at all the three timepoints, were not the same (p < 0.001). No statistically significant differences were found in the measurement at the end of the therapy between the DAT group and the controls. On the other hand, the DAT group achieved significantly better scores (p = 0.001 and p = 0.001), compared to the control, in the follow-up measurements two months after the end of the therapy in postural imitation and finger identification tests. CONCLUSIONS: Some of the scores achieved by the children in the DAT group improved in the measurements performed over time. Two months after the therapy ended, the children in the DAT group presented greater gains in motor planning (postural imitation test) and in the sense of touch, attention, and concentration (finger identification test), compared to the control group. Although the measurement performed immediately after the therapy did not show significant differences between the DAT group and the controls, the examination carried out at the two-month follow-up identified long-term gains in the treatment group in the domain of motor planning (postural imitation test).

GENDER DIFFERENCES IN NEURODEVELOPMENTAL OUTCOMES AMONG FULL-TERM INFANTS WITH INTRAVENTRICULAR HEMORRHAGE.

Intraventricular hemorrhage (IVH) is usually associated with premature infants; however, it has been estimated to occur in up to 5% of infants born at term and may be associated with different prenatal, perinatal and postnatal risk factors. The present retrospective study included toddlers aged 13-24 months, born at term (≥36 weeks), referred to the Department of Rheumatology, Physical Medicine and Rehabilitation in Zagreb, Croatia, because they had at least two risk factors for neurodevelopmental delay. A total of 63 patients without hemorrhage were control subjects, while 103 case patients were children with IVH. The ordinal logistic regression revealed that neurodevelopmental outcome in term infants was associated with IVH grade (p<0.05). Although more boys than girls suffered from severe IVH (grades III and IV), there were no statistically significant gender differences in the distribution of IVH or in neurodevelopmental outcomes (p>0.05).

Efecto de la intervención psicomotriz con participación del cuidador sobre la comunicación gestual de una niña con autismo / Effect of psychomotor intervention with the participation of a caretaker on the gesture communication of a child with autism

Se presenta el caso de una niña de 3 años, con trastorno del espectro autista que mostraba dificultades para relacionarse e integrar los gestos faciales y corporales a su lenguaje verbal; además, se mostraba inflexible a los cambios posturales y presentaba fuerte apego a objetos inanimados. Se brindó una nueva herramienta de intervención en base al movimiento y el afecto a través de las relaciones primarias. El objetivo fue facilitar el gesto motor, de manera que se lograse una comunicación gestual integrada a la verbal y se favoreciese la conexión espontánea de la niña con su cuidador y el entorno. (AU)

We present the case of a 3-year-old girl with autism that showed difficulties to stablish relationships and to integrate facial and body gestures to her verbal language. In addition, she showed inflexibility to postural changes and strong bond to inanimate objects. A new intervention tool was offered based on providing affection and movement through primary relationships. The objective was to facilitate motor gesture to achieve gesture communication integrated to verbal language favoring spontaneous connection of the girl with her caretaker and with her surroundings. (AU)

[Sensory-psychomotor evaluation in Autism: A new tool for functional diagnosis]. / L'évaluation sensori-psychomotrice dans l'autisme : un nouvel outil d'aide au diagnostic fonctionnel.

INTRODUCTION: Psychomotor impairments in Autism Spectrum Disorders (ASD) have frequently been described in scientific literature. Such deficits impact upon the development of social motor function and interfere with the ability to adjust to everyday life. The inclusion of sensory-motor signs in the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) confirms their importance in the diagnosis of ASD. Previous literature has shown the presence precocity of these signs, sometimes before the alteration of the social communication. To our knowledge, there are no existing clinical tools to measure sensory-psychomotor deficit, specifically in ASD. The current paper presents the construction and validation of a new scale, designed to evaluate sensory-psychomotor signs in Autism: 'the Sensory-psychomotor Particularities Scale in Autism' (SPSA). METHOD: The scale is composed of 160 items describing common sensory-psychomotor signs in autism. These items are grouped into 20 variables: touch, nociception, vestibular sensitivity, proprioceptive sensitivity, vision, auditory, multimodality, tone, posture, balance, global coordination, manual dexterity, body schema, bodily self-consciousness, relational adjustment, emotional expression, use of objects, space, time and tonico-emotional regulation. For each item, the psychomotor therapist evaluated sensori-psychomotor signs according to a five-level Likert scale (0="the sign is never expressed by the person", 1="weakly expressed", 2="moderately expressed", 3="severely expressed" and 4="the sign is very characteristic of the person and very severely expressed"). This is completed by a family interview in order to assess the impact of these signs on everyday situations. The study included 111 children with autism. The presence of neurological and genetic diseases was exclusion criteria. For each child, a global developmental evaluation was carried out by an expert clinical team specializing in ASD. Standardized clinical tools were used: Autism Diagnostic Observation Schedule (ADOS), Childhood Autism Rating Scale (CARS), Behavior Summarized Evaluation scale (BSE-R), Repeated and Restricted Behavior scale (RRB), Movement Assessment Battery for Children (M-ABC), Motor Development Rating scale (MDR), Sensory Profile (SP). Developmental quotients (DQ) were evaluated using various tests depending on age and ability. RESULTS: Factor analysis produced three clinically relevant factors: F1: "sensory-emotional synchronization", F2: "multisensory integration" and F3: "motor skills": each containing a similar quantity of items. They account for roughly equal percentages of variance (18.9%, 18.0%, 16.8%, respectively). The factorial structure does not change if the 26 children with comorbid developmental coordination disorder are removed. The three factors show good internal consistency and excellent inter-rater reliability. F1 is comprised of 6 items: touch, nociception, proprioceptive sensitivity, vision, emotional expression and tonico-emotional regulation. This factor is significantly associated with items of the Sensory Profile (touch processing, poor registration, sensory seeking). F2 is comprised of 5 items: multimodality, bodily self-consciousness, relational adjustment, use of objects and space. This factor is associated with ADOS, BSE-R and RRB scores, and the item "touch processing" of the Sensory Profile. F3 is comprised of 4 items: tone, posture, global coordination, manual dexterity. This factor is associated with the M-ABC, the MDR and the item "low endurance" of the Sensory Profile. CONCLUSION: The SPSA is a relevant clinical tool to assess the severity of sensory-psychomotor clinical signs in order to describe the individual profiles of children with ASD. It represents a critical step in advancing knowledge of the complex and heterogeneous pattern of psychomotor development in autism. It could make a valuable contribution to the field, both in research and clinical practice.

Use of a robotic walking aid in rehabilitation to reduce fear of falling is feasible and acceptable from the end user's perspective: A randomised comparative study.

Objectives To determine the acceptability and feasibility of the use of a robotic walking aid to support the work of physiotherapists in reducing fear of falling in the rehabilitation of elderly patients with 'psychomotor disadaptation' (the most severe form of post-fall syndrome). Study design 20 participants with psychomotor disadaptation admitted to an academic rehabilitation ward were randomised to receive physiotherapist care supported by the SafeWalker® robotic walking aid or standard care only, for ten days. SafeWalker® supports the body weight whilst securing postural stability without relying on upper body strength or high cognitive demand. Main outcome measures The primary outcome was the feasibility and acceptability of rehabilitation sessions at five and ten days based on (i) questionnaires completed by patient and physiotherapist, (ii) the number of steps performed during sessions, (iii) replacement of a robotic session by a conventional one. Results The mean age of the participants was 85.2 years. They had lost their ability to perform some basic living activities. Patients in the intervention group found that the rehabilitation sessions were easier (p = 0.048). No robotic rehabilitation session had to be replaced by conventional rehabilitation. There were no statistical differences between the two groups on the other outcome measures. Conclusion We demonstrated the feasibility and acceptability of the use of a robotic walking aid from the perspective of both older individuals and physiotherapists. This could fill the gap between devices that fully compensate for walking and those which allow patients to maintain residual mobility.

[Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review].

Objective: To investigate the clinical manifestations and genetic features of a child with Bainbridge-Ropers syndrome caused by ASXL3 gene variation and review the literature. Methods: Clinical data and genetic features were collected and analyzed from a child with Bainbridge-Ropers syndrome who was diagnosed in Bao'an Maternity and Child Health Hospital in November 2016. "ASXL3" and "Bainbridge-Ropers" were used as key words to search at China National Knowledge Infrastructure, Wangfang Data Knowledge Service Platform, PubMed and Human Gene Mutation Database up to June 2017. Results: A 2(9/12) years old girl was presented with psychomotor retardation, feeding difficulty, hypotonia and specific craniofacial phenotype. She showed severe growth retardation (height: 84 cm, body weight: 8.0 kg (both were less than 3(rd) percentile rank of the children at the same age) and head circumference: 46 cm(=3rd percentile rank)), without obvious abnormalities in laboratory tests and neuroimaging tests. A de novo heterozygous nonsense variation: c.3349C>T(p.R1117*) in ASXL3 gene was identified by the whole exome sequencing, and the novel variation was classified into pathologic variant based on Standards and guidelines for the interpretation of sequence variants from ACMG. According to literature retrieval, no Chinese cases with ASXL3 variation had been reported. Totally 28 cases including the present girl harboring ASXL3 variations with detailed clinical information were reported. Thirty-one variations in ASXL3 gene were involved, including 1 missense variation and 30 loss of function variations, which were all de novo variations. Conclusions: The clinical features of Bainbridge-Ropers syndrome include severe psychomotor retardation, feeding difficulties, hypotonia and specific facial features. The heterozygous nonsense variation in ASXL3 gene is the cause of the patient. All the pathogenic variations in ASXL3 gene are de novo and loss of function variations.

Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review / 中华儿科杂志

Objective@#To investigate the clinical manifestations and genetic features of a child with Bainbridge-Ropers syndrome caused by ASXL3 gene variation and review the literature.@*Methods@#Clinical data and genetic features were collected and analyzed from a child with Bainbridge-Ropers syndrome who was diagnosed in Bao'an Maternity and Child Health Hospital in November 2016. "ASXL3" and "Bainbridge-Ropers" were used as key words to search at China National Knowledge Infrastructure, Wangfang Data Knowledge Service Platform, PubMed and Human Gene Mutation Database up to June 2017.@*Results@#A 29/12 years old girl was presented with psychomotor retardation, feeding difficulty, hypotonia and specific craniofacial phenotype. She showed severe growth retardation (height: 84 cm, body weight: 8.0 kg (both were less than 3rd percentile rank of the children at the same age) and head circumference: 46 cm(=3rd percentile rank)), without obvious abnormalities in laboratory tests and neuroimaging tests. A de novo heterozygous nonsense variation: c.3349C>T(p.R1117*) in ASXL3 gene was identified by the whole exome sequencing, and the novel variation was classified into pathologic variant based on Standards and guidelines for the interpretation of sequence variants from ACMG. According to literature retrieval, no Chinese cases with ASXL3 variation had been reported. Totally 28 cases including the present girl harboring ASXL3 variations with detailed clinical information were reported. Thirty-one variations in ASXL3 gene were involved, including 1 missense variation and 30 loss of function variations, which were all de novo variations.@*Conclusions@#The clinical features of Bainbridge-Ropers syndrome include severe psychomotor retardation, feeding difficulties, hypotonia and specific facial features. The heterozygous nonsense variation in ASXL3 gene is the cause of the patient. All the pathogenic variations in ASXL3 gene are de novo and loss of function variations.

The general movement assessment in non-European low- and middle-income countries

ABSTRACT Abnormal general movements are among the most reliable markers for cerebral palsy. General movements are part of the spontaneous motor repertoire and are present from early fetal life until the end of the first half year after term. In addition to its high sensitivity (98%) and specificity (91%), the assessment of general movements is non-invasive and time- and cost-efficient. It is therefore ideal for assessing the integrity of the young nervous system, most notably in lowresource settings. Studies on the general movements assessment in low- and middle-income countries such as China, India, Iran, or South Africa are still rare but increasing. In Brazil, too, researchers have demonstrated that the evaluation of general movements adds to the functional assessment of the young nervous system. Applying general movements assessment in vulnerable populations in Brazil is therefore highly recommended.