RESUMO

El músculo estriado es un tejido organizado que utiliza la energía química para realizar trabajo físico, el cual se genera a partir de la contracción muscular. Un tono muscular adecuado es necesario para el movimiento eficiente y la realización de actividad básica del cuerpo humano. Las alteraciones del tono muscular en la práctica clínica se clasifican como hipertonía, que es el aumento del tono en los músculos esqueléticos y/o lisos, e hipotonía o flacidez, que es la disminución del tono del músculo esquelético. Los términos hipotonía y flacidez son ampliamente utilizados por los clínicos en la rehabilitación y ambos hacen referencia a una disminución del tono muscular. Este estudio analizó y evaluó el origen etimológico de los términos Hipotonía y Flacidez y la implicancia de sus definiciones. Para determinar el origen etimológico se realizó una búsqueda de los términos en el Diccionario médico-biológico, histórico y etimológico y Diccionario Latino-Español Español-Latino. Para determinar la definición en español se utilizó el Diccionario de Términos Médicos de La Real Academia de Medicina de España; el Diccionario de la Lengua española; el Diccionario Panhispánico de Términos Médicos; la Biblioteca Nacional Médica y la Biblioteca Virtual de Salud de Centro Latinoamericano y del Caribe. Para determinar el uso de estos términos en el ámbito clínico, se realizó una búsqueda en artículos científicos del ámbito neurológico según el criterio de los autores. Por consiguiente, el término más adecuado para referirse a una disminución de tono muscular en rehabilitación sería Hipotonía, de esta manera y según el origen de la lesión, se pueden utilizar los términos Hipotonía central e Hipotonía periférica, si es que están afectadas estructuras asociadas al sistema nervioso central o periférico, respectivamente. Se sugiere que estos términos sean considerados tanto en la práctica clínica como en la docencia cuando existan alteraciones en el sistema nervioso central o periférico que tengan como consecuencia un bajo tono muscular.

SUMMARY: Striated muscle is an organized tissue that utilizes chemical energy to perform physical work, generated through muscle contraction. Proper muscle tone is essential for efficient movement and basic bodily functions. Clinical practice categorizes muscle tone alterations as hypertonia, an increase in tone in skeletal and/or smooth muscles, and hypotonia or flaccidity, a decrease in skeletal muscle tone. These terms are widely used in rehabilitation to denote decreased muscle tone. This study examined the etymological origins of the terms Hypotonia and Flaccidity and their respective definitions. Etymological research utilized the Diccionario Médico- biológico, histórico y etimológico and Diccionario Latino-Español Español-Latino. Spanish definitions were sourced in Diccionario de Términos Médicos de La Real Academia de Medicina de España; Diccionario de la Lengua española; Diccionario Panhispánico de Términos Médicos; Biblioteca Nacional Médica and Biblioteca Virtual de Salud de Centro Latinoamericano y del Caribe. The clinical use of these terms was assessed through neurology articles per authors' criteria. Consequently, Hypotonia is deemed the more suitable term for describing decreased muscle tone in rehabilitation contexts. Depending on the lesion's origin, terms like Central Hypotonia and Peripheral Hypotonia may be used when structures associated with the central or peripheral nervous systems are affected, respectively. It is suggested that these terms be adopted in clinical practice and teaching when addressing alterations in central or peripheral nervous systems resulting in reduced muscle tone.

Assuntos

RESUMO

Glycosylation is the most common protein and lipid post-translational modification in humans. Congenital disorders of glycosylation (CDG) are characterized by both genetic and clinical heterogeneity, presenting multisystemic manifestations, and in most cases are autosomal recessive in inheritance. The PIGN gene is responsible for the addition of phosphoethanolamine to the first mannose in the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, a highly conserved process that enables proteins to bind to the cell surface membrane. Here, we report a family with two siblings pediatric cases with the exact same compound heterozygous variants in PIGN. The (c.776T > C) variant of uncertain significance (VUS) together with a known pathogenic variant (c.932T > G), resulting in clinical features compatible with PIGN-related conditions, more specific the CDG. This is the first time that PIGN variant c.776T > C is reported in literature in individuals with PIGN-congenital disorder of glycosylation (PIGN-CDG), and the current submission in ClinVar by Invitae® is specifically of our case. Detailed clinical information and molecular analyses are presented. Here, we show for the first time two affected siblings with one pathogenic variant (c.932T > G) and the c.776T > C VUS in trans. In honor of the family, we propose the name Bella-Noah Syndrome for disorder.

RESUMO

Baker-Gordon Syndrome (BAGOS) is a genetically determined 4 (NDD), represented by a phenotypic spectrum of moderate to severe intellectual disability, resulting from mutations in the synaptotagmin 1 (SYT1) gene. Its prevalence is estimated at 1:1,000,000 and the known gene variants have indicated complete penetrance with variable expressivity. SYT1 is a membrane trafficking protein in presynaptic vesicles, which exerts a complex influence on synaptic transmission, with fundamental roles in the release of neurotransmitters and facilitators of endocytosis, impacting both neurotransmission and neuron plasticity. The current case report describes the first Brazilian male patient diagnosed at 17-year-old, and the 39th reported case globally using whole-exome sequencing. A de novo heterozygous missense mutation at chr12q:79448958 (NM_005639.2; c.1103T>C; p.Ile368Thr) in the SYT1 was found and classified as a pathogenic variant. The proband's clinical phenotype was compatible with BAGOS, involving behavioral changes such as irritability and severe intellectual disability. Knowledge about the mechanism of action and the extent of the genotypic and phenotypic presentations of the mutations in the SYT1 is still unfolding. Thus, we aimed to describe additional genotype-phenotype correlation for BAGOS, contributing to the expansion of the existing knowledge of such a heterogeneous ultra-rare syndrome, and, therefore, improve its diagnostic yield, case management, and therapeutic journey for future patients.

RESUMO

ABSTRACT People with Trisomy 21 (T21) have generalized hypotonia, also manifesting in oral structures. The palatal memory plate (PMP) is a removable appliance to improve tongue and lip posture. The evidence of research elucidates an improvement in oral motor function in children with T21 up to the age of 2 who received PMP-based therapy, with only limited, scanty reports in the literature concerning older children. Therefore, the aim of this study is to evaluate the effects of modified PMP on an oral motor function in patients over 2 years old. Two patients with T21, aged 4 and 3, with absence of lip seal and tongue malposition, were subjected to PMP-based therapy for 6 months. The patients were evaluated for an extra and intra oral exam; their parents answered a questionnaire about their children's habitual tongue and lip position. Two-minute footage to record orofacial motor functions was performed monthly, during follow-up appointments to assess the changes. The substantial improvement of tongue and lip posture was observed after 6 months of plate regular use. PMP has proved to be clinically effective in children over 2 years old, presented with T21, leading to improvement of lip and tongue posture, observed by parents and professionals.

RESUMO

Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or during the first year of life. Centronuclear CM is characterized by a high incidence of nuclei located centrally and internally in muscle fibers. Clinical case: a 22-year-old male patient with symptoms of muscle weakness since early childhood, with difficulty in performing physical activity according to his age, with the presence of a long face, a waddling gait, and a global decrease in muscle mass. Electromyography was performed, showing a neurogenic pattern and not the expected myopathic one, neuroconduction with reduced amplitude of the motor potential of the peroneal nerve and axonal and myelin damage of the posterior tibial nerves. The microscopic study of the studied striated muscle fragments stained with hematoxylin-eosin and Masson's trichrome showed the presence of fibers with central nuclei, diagnosing CM. The patient meets most of the description for CM, with involvement of all striated muscles, although it is important to note the neurogenic pattern present in this case, due to the denervation of damaged muscle fibers, which contain terminal axonal segments. Neuroconduction shows the involvement of motor nerves, but with normal sensory studies, axonal polyneuropathy is unlikely, due to normal sensory potentials. Different pathological findings have been described depending on the mutated gene in this disease, but all coincide with the presence of fibers with central nuclei for diagnosis by this means, which is so important in institutions where it is not possible to carry out genetic studies, and allowing early specific treatment, according to the stage through which the patient passes.

Assuntos

RESUMO

Introducción. Con las nuevas terapias, el diagnóstico temprano de la atrofia muscular espinal (AME) es esencial. El objetivo de este estudio es analizar los distintos componentes que influyen en el retraso diagnóstico. Población y métodos. Se incluyeron pacientes con un diagnóstico molecular de AME tipo I, II y III. Se estudiaron varios parámetros, como la edad al momento de la aparición del primer signo, qué signo fue y el intervalo entre este y el diagnóstico confirmado. Neurólogos especialistas realizaron entrevistas que se complementaron con la revisión de historias clínicas cuando fue necesario. Resultados. Se entrevistaron 112 pacientes. AME I n = 40, AME II n = 48, AME III n = 24. La mediana de edad en meses al momento del reporte del primer signo fue AME I: 1,5 (R 0-7), AME II: 9 (R 2-20), AME III: 18 (R 8-180). Los primeros signos fueron reconocidos por los padres en el 75 % al 85 % de las veces en todos los subtipos. La mediana del tiempo transcurrido entre el primer signo y la primera consulta médica fue menor a un mes en los tres tipos. La mediana de tiempo transcurrido en meses entre el primer signo y el diagnóstico molecular confirmado fue en AME I: 2 (R 0-11), en AME II: 10 (3-46) y en AME III: 31,5 (R 4-288). Conclusiones. Existe un significativo retraso en el diagnóstico de la AME relacionado fundamentalmente a la falta de sospecha clínica. La demora es menor en AME I y mayor en AME III. Otros factores incluyen deficiencias en el sistema de salud.

Introduction. News treatments, make early diagnosis of spinal muscular atrophy (SMA) critical. The objective of this study is to analyze the different factors that influence delay in diagnosis. Population and methods. Patients with a molecular diagnosis of types I, II, and III SMA were included. Several parameters were studied, such as age at onset of first sign, what sign it was, and the time from recognition of first sign to confirmed diagnosis. Neurologists specialized in SMA conducted interviews, supported by the review of medical records when deemed necessary. Results. A total of 112 patients were interviewed. SMA I n = 40, SMA II n = 48, SMA III n = 24. The median age in months at the time of reporting the first sign was SMA I: 1.5 (R: 0­7), SMA II: 9 (R: 2­20), SMA III: 18 (R: 8­180). In all subtypes, first signs were identified by parents from 75% to 85% of the times. The median time from first sign to first medical consultation was less than a month in all 3 types. The median time in months, from first sign to confirmed molecular diagnosis in SMA I was: 2 (R: 0­11), in SMA II: 10 (R: 3­46), in SMA III: 31.5 (R: 4­288). Conclusions. There is a significant delay in SMA diagnosis mainly related to the absence of clinical suspicion. The delay is shorter in SMA I and longer in SMA III. Other factors include deficiencies in the health care system.

Assuntos

RESUMO

Introduction. News treatments, make early diagnosis of spinal muscular atrophy (SMA) critical. The objective of this study is to analyze the different factors that influence delay in diagnosis. Population and methods. Patients with a molecular diagnosis of types I, II, and III SMA were included. Several parameters were studied, such as age at onset of first sign, what sign it was, and the time from recognition of first sign to confirmed diagnosis. Neurologists specialized in SMA conducted interviews, supported by the review of medical records when deemed necessary. Results. A total of 112 patients were interviewed. SMA I n = 40, SMA II n = 48, SMA III n = 24. The median age in months at the time of reporting the first sign was SMA I: 1.5 (R: 0-7), SMA II: 9 (R: 2-20), SMA III: 18 (R: 8-180). In all subtypes, first signs were identified by parents from 75% to 85% of the times. The median time from first sign to first medical consultation was less than a month in all 3 types. The median time in months, from first sign to confirmed molecular diagnosis in SMA I was: 2 (R: 0-11), in SMA II: 10 (R: 3-46), in SMA III: 31.5 (R: 4-288). Conclusions. There is a significant delay in SMA diagnosis mainly related to the absence of clinical suspicion. The delay is shorter in SMA I and longer in SMA III. Other factors include deficiencies in the health care system.

Introducción. Con las nuevas terapias, el diagnóstico temprano de la atrofia muscular espinal (AME) es esencial. El objetivo de este estudio es analizar los distintos componentes que influyen en el retraso diagnóstico. Población y métodos. Se incluyeron pacientes con un diagnóstico molecular de AME tipo I, II y III. Se estudiaron varios parámetros, como la edad al momento de la aparición del primer signo, qué signo fue y el intervalo entre este y el diagnóstico confirmado. Neurólogos especialistas realizaron entrevistas que se complementaron con la revisión de historias clínicas cuando fue necesario. Resultados. Se entrevistaron 112 pacientes. AME I n = 40, AME II n = 48, AME III n = 24. La mediana de edad en meses al momento del reporte del primer signo fue AME I: 1,5 (R 0-7), AME II: 9 (R 2-20), AME III: 18 (R 8-180). Los primeros signos fueron reconocidos por los padres en el 75 % al 85 % de las veces en todos los subtipos. La mediana del tiempo transcurrido entre el primer signo y la primera consulta médica fue menor a un mes en los tres tipos. La mediana de tiempo transcurrido en meses entre el primer signo y el diagnóstico molecular confirmado fue en AME I: 2 (R 0-11), en AME II: 10 (346) y en AME III: 31,5 (R 4-288). Conclusiones. Existe un significativo retraso en el diagnóstico de la AME relacionado fundamentalmente a la falta de sospecha clínica. La demora es menor en AME I y mayor en AME III. Otros factores incluyen deficiencias en el sistema de salud.

Assuntos

RESUMO

OBJECTIVE: To describe the clinical presentation and long-term clinical features of a molecularly confirmed cohort with Cohen syndrome. STUDY DESIGN: Twelve patients with Cohen syndrome aged 0.2-13.9 years from 8 families with a median follow-up of 7 years were enrolled to the study. Genetic analyses were made by VPS13B and whole-exome sequencing analyses. RESULTS: Biallelic VPS13B variants, including 3 nonsense, 1 frameshift, and 1 splice-site variant, and a multiexon deletion were detected. Prader-Willi syndrome-like features such as hypotonia, small hands, round face with full cheeks, almond-shaped eyes, and micrognathia were observed in all infantile patients. Beginning from age 4 years, it was noticed that the face gradually elongated and became oval. The typical facial features of Cohen syndrome such as a long face, beak-shaped nose, and open-mouth appearance with prominent upper central incisors became evident at age 9. Other Cohen syndrome features including retinopathy (11/11), neutropenia (11/12), truncal obesity (5/12), and myopia (5/11) were detected at the median ages of 7.8, 7, 7.5, and 5 years, respectively. Eleven patients aged older than 5 years at their last examination had severe speech delay. CONCLUSIONS: A differential diagnosis of Cohen syndrome in the infancy should be made with Prader-Willi syndrome, and that the typical facial features for Cohen syndrome is prominent at age 9 years, when retinopathy, neutropenia, and truncal obesity become evident. Moreover, adding the severe speech delay to the diagnostic criteria should be considered.

Assuntos

RESUMO

RESUMO Indivíduos com Trissomia do 21 podem apresentar hipotonia muscular dos órgãos fonoarticulatórios, língua alargada, posicionada no assoalho oral e protrusa e ausência de selamento labial. A placa palatina de memória é um dispositivo intraoral que, associado à terapia miofuncional, visa à melhora da postura habitual dos lábios e da língua dessas crianças. O objetivo deste trabalho foi apresentar os casos de quatro crianças com Trissomia do 21, do sexo masculino, com média de idade de 6,7 e desvio-padrão de 7,8 meses, que fizeram uso da placa palatina de memória de forma associada à terapia miofuncional. As crianças utilizaram a placa por seis meses, realizaram exercícios baseados na terapia de regulação orofacial e receberam orientações quanto à alimentação e retirada de hábitos orais deletérios. Na primeira sessão e ao final do tratamento, foi realizada a gravação de 5 minutos da face de cada criança em repouso e a análise da postura habitual de língua e de lábios foi realizada por dois pesquisadores independentes. Observou-se maior melhora da postura de língua e de lábios dos participantes que iniciaram o tratamento mais precocemente e que apresentavam as alterações posturais mais severas.

ABSTRACT Individuals with trisomy 21 may have muscle hypotonia of the speech articulation organs, an enlarged protruding tongue positioned on the floor of the mouth, and a lack of lip closure. The stimulating palatal plate is an intraoral appliance that, associated with myofunctional therapy, aims to improve these children's habitual lip and tongue posture. This study aimed to present the cases of four male children with trisomy 21, with a mean age of 6.7 and a standard deviation of 7.8 months, who used the stimulating palatal plate in association with myofunctional therapy. The children used the plate for 6 months and did exercises based on the orofacial regulation therapy, and their parents received instructions on feeding them and removing deleterious oral habits. In the first session and at the end of the treatment, each child's face was video-recorded for 5 minutes at rest, and two researchers analyzed independently their habitual tongue and lip posture. Participants who began the treatment earlier and had the most severe postural changes had greater tongue and lip posture improvement.

RESUMO

The aim of the present study was to investigate orofacial pain in individuals with Down syndrome (DS) and determine possible associations with masticatory muscle hypotonia (MMH), maximum mouth opening (MMO), and sleep disorders. Twenty-three individuals with DS underwent a standardized clinical examination using Axis I of the Diagnostic Criteria for Temporomandibular Disorders, for the diagnosis of pain in the masseter and temporal muscles and temporomandibular joint (TMJ). MMH was investigated using electromyography of the temporal and masseter muscles and the measurement of maximum bite force (MBF). MMO was measured using an analog caliper. Sleep disorders (obstructive sleep apnea [OSA], snoring index [SI], and sleep bruxism index [SBI]) were investigated using type II polysomnography. Statistical analysis was performed. Nonsignificant differences were found in muscle and TMJ pain between the sexes. However, myalgia and referred myofascial pain in the left masseter muscle were more frequent in males (69%) than females (40%). Electrical activity of the temporal (left: p = .002; right: p = .004) and masseter (left: p = .008) muscles was significantly lower in males than in females. MBF range was lower in males than females, indicating the highest MMH among males. OSA, SI, and SBI were identified in both sexes, but with no statistically significant differences. We concluded that myalgia and referred myofascial pain were found in some individuals with DS, especially in males. Arthralgia was found mainly in females. Temporal and masseter myalgia may have exerted an influence on the severity of MMH in males, particularly on the left side.

Assuntos

RESUMO

Associations between fetal exposure to antidepressants and neonatal hypotonia were studied using VigiBase and the French PharmacoVigilance Database. We identified significant associations between neonatal hypotonia and clomipramine, venlafaxine, and imipramine. Reports from the French database implicated prolonged fetal exposure. Neonatal hypotonia may be associated with in utero exposure to antidepressants.

Assuntos

RESUMO

OBJECTIVE: To determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS). STUDY DESIGN: A prospective observational cohort study was conducted from the initiation of Pompe disease NBS by following subjects every 3-12 months for motor development and biochemical markers. RESULTS: Between 2005 and 2018, 39 of 994 975 newborns evaluated were classified as having LOPD based on low acid α-glucosidase (GAA) activity but no cardiac involvement at the time of screening. As of December 2020, 8 of these 39 infants (21%) were treated with enzyme replacement therapy owing to persistent elevation of creatine kinase (CK), cardiac involvement, or developmental delay. All subjects' physical performance and endurance improved after treatment. Subjects carrying c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] presented a phenotype of nonprogressive hypotonia, muscle weakness, and impairment in physical fitness tests, but they have not received treatment. CONCLUSIONS: One-fifth of subjects identified through NBS as having LOPD developed symptoms after a follow-up of up to 15 years. NBS was found to facilitate the early detection and early treatment of those subjects. GAA variants c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] might not cause Pompe disease but still may affect skeletal muscle function.

Assuntos

RESUMO

BACKGROUND: Poirier-Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature. OBJECTIVE: To report two unrelated cases of children harboring CSNK2B variants (NM_001320.6) who presented with distinct diseases. CASE REPORT: Case 1 is a 7-month-old, Caucasian, female patient with chief complaints of severe hypotonia and drug-refractory myoclonic epilepsy, with a likely pathogenic de novo variant c.494A>G (p.His165Arg). Case 2 is a 5-year-old male, Latino patient with craniodigital intellectual disability syndrome subjacent to a de novo, likely pathogenic variant c.94G>T (p.Asp32Tyr). His dysmorphic features included facial dysmorphisms, supernumerary nipples, and left-hand postaxial polydactyly. CONCLUSION: This report suggest that the CSNK2B gene may be involved in the physiopathology of neurodevelopmental disorders and variable dysmorphic features.

Assuntos

RESUMO

Although the management of postpartum hemorrhage (PPH) has improved in recent years; even today, it continúes to be the leading cause of maternal mortality worldwide, mainly in low-income countries and represents 25%-35% of all pregnancy-related deaths, it is estimated to be responsible for around 143,000 maternal deaths per year. PPH also contributes significantly to maternal morbidity and is one of the main reasons for admission to intensive care and for obstetric hysterectomy in the postpartum period. The causes of PPH are varied and have been classified according to their underlying pathophysiology. Being the first cause of PPH uterine hypotonia/atony (70%-80%), although we must consider that there are other entities that can cause or contribute to acute hemorrhage, management of hypotonia has traditionally been based on uterotonics, so an adjustment to this scheme is suggested, granting a broad vision of the subject.

A pesar de que el manejo de la hemorragia posparto (HPP) ha mejorado en los últimos años; aún en la actualidad, continúa siendo la primera causa de mortalidad materna a nivel mundial principalmente en países de bajos ingresos y representa el 25%-35% de todas muertes relacionadas con el embarazo, se estima que es responsable de alrededor de 143.000 muertes maternas al año. La HPP también contribuye significativamente a la morbilidad materna y es una de las principales razones para la admisión en cuidados intensivos y para la histerectomía obstétrica en el período posparto. Las causas de la HPP son variadas y se han clasificado según su fisiopatología subyacente. Siendo la primera causa de HPP la hipotonía/atonía uterina (70%-80%), aunque debemos tomar en cuenta que existen otras entidades que pueden causar o contribuir a hemorragia aguda, el manejo de la hipotonía se ha basado tradicionalmente en uterotónicos, por lo que se sugiere un ajuste a este esquema otorgando una visión amplia del tema.

Assuntos

RESUMO

Este estudo tem como objetivo avaliar os efeitos das terapias com eletroestimulação neuromuscular e dispositivos biomecânicos intraorais sobre as propriedades físicoquímica e microbiológica da saliva em pacientes com síndrome de Down (SD) e apneia obstrutiva do sono (AOS). Ainda investigamos a morfologia das glândulas salivares maiores: parótidas, submandibulares e sublinguais para verificar possíveis desordens estruturais nesses indivíduos. Vinte e três pacientes adultos com SD e AOS, com idade entre 18 e 31 anos, de ambos os gêneros, foram convidados para participar deste estudo. Dentre esses pacientes, 18 concluíram as terapias propostas e foram divididos em três grupos: EENMs (n=7; terapia com eletroestimulação neuromuscular de superfície), DMHB (n=4; terapia com dispositivo mastigatório com hiperboloide) e AIOm (n=7; terapia com aparelho intraoral de avanço mandibular). A EENMs foi aplicada sobre os músculos masseter (porção superficial) e temporal (porção anterior), em ambos os lados. O DMHB foi posicionado entre as faces oclusais dos dentes posteriores e o paciente mordeu suas pontas ativas com hiperboloide. O AIOm foi utilizado somente no período de sono. Esse aparelho foi ativado lentamente, de 0,5 mm a 1,0 mm a cada 1 ou 2 semanas, respeitando as limitações fisiológicas do paciente. Todas as terapias foram realizadas durante 2 meses consecutivos. Antes e após as terapias propostas, testes de saliva foram realizados, incluindo taxa de fluxo salivar (TFS), valor de pH, capacidade tampão (CT), cortisol salivar matinal (CSmatinal) e noturno (CSnoturno) e identificação de Pseudomonas aeruginosas (P. aeruginosas). A seguir, a morfologia das glândulas salivares maiores, foram investigadas através do exame de ultrassonografia. Na análise estatística, teste de Wilcoxon (signed-rank test) para análise de correlação e teste de Kruskal-Wallis com o teste de Dunn para comparações múltiplas não paramétricas foram feitos. O nível de significância foi de p < 0,05. Embora a TFS tenha permanecido reduzida, a produção de saliva aumentou em todas as terapias. A TFS mostrou diferença estatística apenas no AIOm (p<0,0225). Houve diferença estatística no valor de pH apenas no EENMs (p < 0,0346). Nenhuma diferença estatística no CT foi encontrada; entretanto, os valores de normalidade foram alcançados (valores de limítrofe para normal) em 50% para DMHB e em 29% para EENMs e AIOm. Os valores normais de CSn não foram afetados, embora os níveis de CSn tenham aumentado estatisticamente na EENM (p < 0,0360) e entre as terapias EENM e AIOm (p < 0,0058). Nenhuma espécie de P. aeruginosa foi identificada em nossos pacientes antes das terapias. Neste estudo, pudemos concluir que a redução de fluxo salivar permaneceu nos pacientes com SD e AOS após as terapias propostas; entretanto, o AIOm seguido do DMHB mitigaram a severidade dessa alteração. A EENMs teve melhor desempenho em relação a qualidade da saliva quando comparado com as demais terapias. Dentre as terapias, os pacientes tratados com AIOm mostraram alta susceptibilidade ao estresse no período noturno. Nenhum paciente tinha risco de pneumonia por aspiração, antes das terapias. Nenhuma anomalia congênita de glândulas salivares maiores foi evidenciada, todavia alterações adquiridas foram observadas em alguns pacientes com SD e AOS (AU).

This study aims to evaluate the effects of neuromuscular electrostimulation therapies and intraoral biomechanical devices on the physicochemical and microbiological properties of saliva in patients with Down syndrome (DS) and obstructive sleep apnea (OSA). In addition, we investigated the major salivary glands' morphology: the glands of parotid, submandibular and sublingual to verify possible structural disorders in these individuals. Twenty-three adult patients with DS and OSA, with age range from 18 to 31 years old, of both genders, were invited to participate in this study. Among these patients, 18 patients completed the proposed therapies, and they were divided into three groups of therapy: sNME (n=7; therapy with surface neuromuscular electrostimulation), MDHB (n=4; therapy with masticatory device with hyperboloid) and mIOA (n= 7; therapy with mandibular advancement intraoral appliance). The sNME was applied on the masseter (superficial portion) and temporal (anterior portion) muscles on both the sides. The MDHB was positioned between the occlusal surfaces of the posterior teeth and the patient bit the active tips with hyperboloid. The mIOA was used only during the sleep. This appliance was activated slowly, from 0.5 mm to 1.0 mm per 1 to 2 weeks, respecting the patient's physiological limitations. All therapies were performed for 2 consecutive months. Before and after the proposed therapies, saliva tests were done, including salivary flow rate (SFR), pH value, buffering capacity (BC), morning (morningSC) and night (nightSC) salivary cortisol, and identification of Pseudomonas aeruginosa (P. aeruginosa). Furthermore, the major salivary glands' morphology, were investigated by means of ultrasound examination. For statistical analysis, Wilcoxon signed-rank test for correlation analysis and Kruskal-Wallis test with Dunn's test for nonparametric multiple comparisons were done. The level of significance was p < 0.05. Although SFR remained reduced, the saliva production increased in all therapies. The SFR showed a statistical difference only in the mIOA (p<0.0225). Despite the few variations in the pH value, there was a statistical difference only in the sNME (p<0.0346). No statistical difference was found in BC; however, the normality values were reached (borderline to normal values) in 50% for MDHB and in 29% for sNME and mIOA. The normal values of nSC were not affected, even though the nSC levels have increased statistically in NMES (p < 0.0360) and between the NMES and mIOA therapies (p <0.0058). No P. aeruginosa species was identified in our patients before the therapies. In this study, we concluded that the reduction in salivary flow remained in DS patients with DS and OSA after the proposed therapies; however, mIOA followed by MDHB mitigated the severity of this alteration. sNME showed better performance in relation to saliva quality when compared to other therapies. Among the therapies, patients treated with mIOA showed high susceptibility to stress, particularly at night. No patient had risk of aspiration pneumonia before the therapies. No congenital anomalies of major salivary glands were evidenced, but acquired alterations were observed in some patients with DS and OSA. (AU)

Assuntos

RESUMO

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to Amyotrophic Lateral Sclerosis. The main objective of this study is detail clinical, radiological, neurophysiological, and genetic findings of a Brazilian cohort of patients with a recent described condition known as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency and compare with other cases described in the literature and discuss whether the clinical picture related to SOD1 protein deficiency is a new entity or may be represent a very early-onset form of Amyotrophic Lateral Sclerosis. METHODS: We conducted a case series report which included retrospective data from five Brazilian patients with SOD1 protein deficiency of a Brazilian reference center for Neuromuscular Disorders. Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. RESULTS: All 5 patients presented with a childhood-onset neurodegenerative disorders characterized by spastic tetraplegia with axial hypotonia in all cases, with gestational history showing polyhydramnios in 4/5 and intrauterine growth restriction in 3/5 patients, with most patients initially presenting a normal motor development until the six month of life or during the first year followed by a rapidly progressive motor decline with severe dysphagia and respiratory insufficiency in all patients accompanied by cognitive impairment in 3/5 patients. All patients were homozygous for the c.335dupG (p.Cys112Trpfs*11) mutation in the SOD1 gene with completely decreased enzyme activity. CONCLUSIONS: This case series is the biggest data collection of the new recent clinical entity described as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency.

Assuntos

RESUMO

In this cross-sectional study, we aimed to evaluate the association between generalized hypotonia (GH) and demographic features and clinical characteristics in toddlers (2 to 5 years) with autism spectrum disorder (ASD). Among 93 children, 32 (34.4%) had GH. These patients had a later onset of independent walking (17 vs. 15 months, p < 0.01), a higher proportion of motor stereotypies (65.6 vs. 27.9%, p < 0.01), a lower mean total score in the parental-reported Generic Core Scale of Pediatric Quality of Life Inventory 4.0 (71 vs. 76 points, p 0.03), and a higher mean total score in the Calibrated Severity Score of Autism Diagnostic Observation Schedule version 2 at diagnosis (6 vs. 5 points, p 0.02) compared to the group without GH.Conclusion: Hypotonia is associated with other motor abnormalities and could be an early marker for higher autistic symptom severity and lower quality of life in young children with ASD. What is Known: • Motor function is closely related to autism spectrum disorder (ASD) • Muscle hypotonia is present in 15% to 67% of children with ASD What is New: • Muscle hypotonia is associated with higher autistic symptom severity and lower quality of life in children with ASD • Children with ASD and muscle hypotonia have more commonly motor stereotypies and a later onset of independent walking.

Assuntos

RESUMO

Aim: To identify abnormalities in muscle tone and motor function associated with congenital Zika syndrome (CZS).Method: A cross-sectional observational study involving 96 children (55 males) with CZS at a mean (SD) age 35.2 ± 2.9 months. Children's muscle tone was investigated using the pull to sit, scarf sign, shoulder suspension and ventral suspension tests and the modified Ashworth scale (MAS). Motor impairment was determined using the Gross Motor Function Classification System (GMFCS) and body segments most affected with motor impairment.Results: 58 (60,5%) children tested positive for ≥1 maneuver used to evaluate muscle tone, while 38 (39.5%) tested negative in all the tests. MAS score was >0 for at least one of the appendicular muscles in 91 children (94.8%). In 88 children (91.7%), all four limbs were affected.Conclusion: Findings suggestive of axial hypotonia and appendicular hypertonia associated with severe motor impairment were prevalent in children with CZS.

Assuntos

RESUMO

Spinal muscular atrophy (SMA) is a rare, inherited autosomal recessive disease. Histopathological shreds of evidence related to the condition have suggested degenerative changes at the level of the spinal cord and brain stem. Deletions or mutations in the survival motor neuron 1 (SMN1) gene are the underlying cause of this disease. It is characterized by hypotonia, muscular atrophy, areflexia, fasciculations, and flaccid paralysis. It is further classified into five variants, depending upon the patient's age and clinical features. In this report, we present a rare case of SMA type 2 in a one-year-old female infant who presented with generalized hypotonia and axial body weakness. Besides clinical evaluation, her genetic analysis confirmed that she had a deletion of one of the SMN1 genes. Hence, the diagnosis of SMA type 2 was confirmed. Our study aims to emphasize that clinicians must consider this rare entity whenever a patient presents with the signs and symptoms mentioned above. As the most common cause of death in this disease is respiratory depression, an early diagnosis would prevent complications and help in the parents' genetic counseling.

RESUMO

Introducción: La distrofia miotónica congénita es la forma clínica que produce la expresión fenotípica más grave, con alta morbilidad y mortalidad en los primeros meses de vida, dadas fundamentalmente por las complicaciones respiratorias. Objetivo: Describir una serie de casos con expresión clínica de distrofia miotónica congénita. Presentación de casos: La serie estaba conformada por cuatro pacientes con diagnóstico de la enfermedad en la provincia de Pinar del Río, Cuba. El estudio se realizó entre: enero de 2015-diciembre de 2019. Se revisaron las características clínicas, epidemiológicas y genéticas de la entidad. Se analizaron los antecedentes prenatales-perinatales de cada caso, las manifestaciones fenotípicas, los antecedentes familiares y el cálculo de la prevalencia. En el 100 por ciento de los casos se presentó parto pretérmino con depresión neonatal severa e hipotonía. Entre los antecedentes prenatales se describió la disminución de los movimientos fetales y el polihidramnios en el 75 y 50 por ciento de los casos, respectivamente. La totalidad de los pacientes eran descendientes de madres afectadas. Las principales complicaciones que condujeron a morbilidad y mortalidad en el 100 por ciento de los casos fueron las relacionadas con el sistema respiratorio, trastornos hidroelectrolíticos y las infecciones asociadas. Conclusiones: En el período neonatal son importantes los antecedentes prenatales-perinatales de los pacientes con distrofia miotónica. Estos antecedentes, constituyen acontecimientos que forman parte de la secuencia de hipoquinesia fetal dada por la afectación neuromuscular intraútero. Los antecedentes familiares y sobre todo cuando la madre está afectada conducen a expresiones severas en la descendencia(AU)

Introduction: Congenital myotonic dystrophy is a clinical form that produces the most severe phenotypic expression, with high morbility and mortality in the first months of life mainly due to respiratory complications. Objective: To describe a serie of cases with clinical expression of congenital myotonic dystrophy. Cases presentation: The serie was formed by 4 patients with diagnosis of the disease in Pinar del Río province, Cuba. The study was made from January, 2015 to December, 2019. There were reviewed the clinical, epidemiological and genetic characteristics of this entity. There were analyzed prenatal and perinatal backgrounds of each case, phenotypic manifestations, the family records and the prevalence calculations. In 100 percent of the cases it was presented preterm birth with severe neonatal depression and hypotonia. Among the prenatal backgrounds, it was described the decrease of the fetal movements and polyhydramnios in the 75 and 50 percent of the cases, respectively. All the patients were descendants of affected mothers. The main complications that led to morbility and mortality in 100 percent of the cases were the ones related with the respiratory system, hydrolectrolitic disorders and associated infections. Conclusions: In the neonatal period are important the prenatal-perinatal records of patients with myotonic dystrophy. This background shows events that are part of the fetal hypokinesia´s sequence caused by intrauterine neuromuscular affectation. Family background and especially when the mother is affected lead to severe expressions in the descendants(AU)

Assuntos