RESUMEN

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.

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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.

Asunto(s)

Humanos , Rehabilitación , Hipotonía Muscular , Terminología como Asunto

RESUMEN

BACKGROUND: Deficiencies in the thyroid hormone transporter monocarboxylate 8 (MCT8) due to pathogenic variants in the SLC16A2 gene (OMIM 300095) result in a complex phenotype with main endocrine and neurologic symptoms. This rare disorder, named Allan-Herndon-Dudley syndrome (AHDS) (OMIM 300523), is inherited in an X-linked trait. One of the prominent features of AHDS is the presence of movement disorders (MD), which are complex and carry a significant burden of the disease. CASES: Patient 1: male with hypotonia since birth, developmental delay, dystonic posturing at 4 months and at 15 months, and startle reaction developed with sensory stimuli. Patient 2: male, at 2 months, shows hypotonia and developmental delay, paroxysmal episodes triggered by a stimulus with sudden blush, tonic asymmetric posture, and no epileptiform activity. At 10 months, generalized dystonic posturing. Patient 3: typical neurodevelopmental milestones until 6 months; at 24 months, dystonia, startle reaction, and upper motoneuron signs. CONCLUSIONS: We aim to describe our patients diagnosed with AHDS, focusing on MD phenomenology and strengthening the phenotype-genotype correlations for this rare condition.

Asunto(s)

Hipotonía Muscular , Humanos , Masculino , Hipotonía Muscular/genética , Transportadores de Ácidos Monocarboxílicos/genética , Transportadores de Ácidos Monocarboxílicos/deficiencia , Atrofia Muscular/genética , Atrofia Muscular/patología , Lactante , Trastornos del Movimiento/genética , Discapacidad Intelectual Ligada al Cromosoma X/genética , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Simportadores/genética , Simportadores/deficiencia , Colombia , Preescolar , Fenotipo , Discapacidades del Desarrollo/genética

RESUMEN

Este estudo relata um caso de flacidez abdominal após 3 gestações no qual foi utilizada a técnica de fios de polidioxanona (PDO) lisos e espiculados, técnica ainda não descrita na literatura paratratarestaqueixa.Apacientefoiacompanhadapor90dias,ehouvemelhoradaabertura da prega umbilical, do tônus da pele, de densidade dérmica e da flacidez tissular após 60 dias. Neste período, a paciente declarou estar totalmente satisfeita e foiestabelecidaaaltadotratamento.Comestepresenterelatodecasopodemosconcluirquea terapia combinada de fios de PDO parafusos e fios de PDO espiculados (Sculpt®) apresentam resultados muito expressivos em relação a qualidade da pele promovendo melhora visível na flacidez tissular

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Thisstudyreportsacaseofabdominalflaccidityafterthreepregnancies,inwhichthetechnique ofsmoothandspiculatedpolydioxanonethreadswasused,atechniquenotyetdescribedinthe literature to treat this complaint. The patient was followed up for 90 days, but there was an improvement in the opening of the umbilical fold, skin tone, increase in dermal density and especially a reduction in tissue flaccidity in 60 days. During this period, the patient declared thatshewascompletelysatisfied,anddischargefromtreatmentwasestablished.Withthiscase report, we can conclude that the combined therapy of PDO threads screws and PDO threads spiculated (Sculpt®) presentvery expressive results about the quality of the skin, promoting a visible improvement in tissue flaccidity

Asunto(s)

Humanos , Informes de Casos , Abdomen , Hipotonía Muscular

Asunto(s)

Insuficiencia de Crecimiento , Hipotonía Muscular , Humanos , Lactante , Hipotonía Muscular/etiología , Insuficiencia de Crecimiento/etiología

RESUMEN

Early onset myopathies are a clinically and histologically heterogeneous monogenic diseases linked to approximately 90 genes. Molecular diagnosis is challenging, especially in patients with a mild phenotype. We describe a 26-year-old man with neonatal hypotonia, motor delay and seizures during infancy, and non-progressive, mild muscular weakness in adulthood. Serum Creatine kinase level was normal. Whole-body muscle MRI showed thin muscles, and brain MRI was unremarkable. A deltoid muscle biopsy showed glycogen storage. WGS revealed a de novo 1.4 Mb-deletion of chromosome 14, confirmed by Array-CGH. This microdeletion causes the loss of ten genes including RALGAPA1, encoding for RalA, a regulator of glucose transporter 4 (GLUT4) expression at the membrane of myofibers. GLUT4 was overexpressed in patient's muscle. Here we highlight the importance to search for chromosomal alterations in the diagnostic workup of early onset myopathies.

Asunto(s)

Glucógeno , Enfermedades Musculares , Masculino , Recién Nacido , Humanos , Adulto , Cromosomas Humanos Par 14 , Enfermedades Musculares/genética , Hipotonía Muscular/genética , Fenotipo , Proteínas del Tejido Nervioso/genética , Proteínas Activadoras de GTPasa/genética

RESUMEN

BACKGROUND: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000-1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the "molar tooth sign," hypotonia, and delayed neurodevelopment. CASE REPORT: We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the "molar tooth sign," where the pathognomonic sign of Joubert syndrome. CONCLUSIONS: Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient's quality of life with a multidisciplinary management and genetic counseling.

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INTRODUCCIÓN: El síndrome de Joubert es una rara condición genética con una prevalencia de 1:80,000 a 1:100,000. En la mayoría de los casos se presenta con un patrón de herencia autosómica recesiva, aunque se han reporatdo casos ligados al cromosoma X y autosómicos dominantes. La característica distintiva de este síndrome es la malformación a nivel cerebral y del cerebelo conocido como el "signo del molar", hipotonía y retraso en el neurodesarrollo. CASO CLÍNICO: Se describe el caso de un recién nacido con taquipnea transitoria del recién nacido; sin embargo, durante su estancia manifestó otros signos que no correspondían con el diagnóstico de ingreso, como bradicardia, apneas, hipotonía y alteración en la mecánica de la deglución. Para descartar etiologías de origen central, se realizó una resonancia magnética cerebral en la que se detectó el "signo del molar", patognomónico del síndrome de Joubert. CONCLUSIONES: Las enfermedades genéticas raras pueden manifestarse desde el periodo neonatal con signos muy inespecíficos. El diagnóstico precoz del Síndrome de Joubert permite un mejor seguimiento pediátrico que impacta en su pronóstico y en la posibilidad de mejorar la calidad de vida del paciente con un manejo multidisciplinario, así como brindar asesoramiento genético.

Asunto(s)

Anomalías Múltiples , Anomalías del Ojo , Enfermedades Renales Quísticas , Masculino , Recién Nacido , Humanos , Niño , Cerebelo/anomalías , Cerebelo/patología , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Anomalías del Ojo/patología , Enfermedades Renales Quísticas/diagnóstico , Enfermedades Renales Quísticas/genética , Enfermedades Renales Quísticas/patología , Retina/anomalías , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/etiología , Hipotonía Muscular/patología , Calidad de Vida , Diagnóstico Precoz

RESUMEN

Extubation failure (EF) after cardiac surgery is associated with poorer outcomes. Approximately 50% of children with Down syndrome (DS) have congenital heart disease. Our primary aim was to describe the frequency of EF and identify risk factors for its occurrence in a population of patients with DS after cardiac surgery. Secondary aims were to describe complications, length of hospital stay, and mortality rates. This report was a retrospective case-control study and was carried out in a national reference congenital heart disease repair center of Chile. This study includes all infants 0-12 months old with DS who were admitted to pediatric intensive care unit after cardiac surgery between January 2010 and November 2020. Patients with EF (cases) were matched 1:1 with children who did not fail their extubation (controls) using the following criteria: age at surgery, sex, and type of congenital heart disease. Overall, 27/226 (11.3%) failed their first extubation. In the first analysis, before matching of cases and controls was made, we found association between EF and younger age (3.8 months vs 5 months; p = 0.003) and presence of coarctation of the aorta (p = 0.005). In the case-control univariate analysis, we found association between an increased cardiothoracic ratio (CTR) (p = 0.03; OR 5 (95% CI 1.6-16.7) for a CTR > 0.59) and marked hypotonia (27% vs 0%; p = 0.01) with the risk of EF. No differences were found in ventilatory management. CONCLUSIONS: In pediatric patients with DS, EF after cardiac surgery is associated with younger age, presence of aortic coarctation, higher CTR reflecting the degree of cardiomegaly and hypotonia. Recognition of these factors may be helpful when planning extubation for these patients. WHAT IS KNOWN: • Extubation failure after cardiac surgery is associated with higher morbidity and mortality rates. Some studies report higher rates of extubation failure in patients with Down syndrome. WHAT IS NEW: • In children with Down syndrome, extubation failure after cardiac surgery is associated with younger age, presence of aortic coarctation, higher CTR reflecting cardiomegaly and severe hypotonia.

Asunto(s)

Coartación Aórtica , Procedimientos Quirúrgicos Cardíacos , Síndrome de Down , Cardiopatías Congénitas , Lactante , Humanos , Niño , Recién Nacido , Síndrome de Down/complicaciones , Estudios Retrospectivos , Coartación Aórtica/etiología , Extubación Traqueal/efectos adversos , Estudios de Casos y Controles , Hipotonía Muscular/etiología , Procedimientos Quirúrgicos Cardíacos/efectos adversos , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/cirugía , Factores de Riesgo , Cardiomegalia/etiología , Tiempo de Internación

RESUMEN

Objetivo ­ Avaliar as práticas de aleitamento materno em crianças com Síndrome de Down. O aleitamento materno é uma prática es-sencial para o desenvolvimento do hábito alimentar dos lactentes. O público que possui Síndrome de Down precisa de um auxílio nesse momento devido às características decorrentes da alteração genética que podem influenciar negativamente a prática. Métodos ­ Estudo transversal, com questionário direcionado a mães de crianças com Síndrome de Down participantes de grupos fe-chados de Síndrome de Down na rede social Facebook®, onde foram coletadas características socioeconômicas destas mulheres, além de características de sua gestação e informações pertinentes a crianças. Resultados ­ Observou-se que 44,0% tiveram dificuldade no aleitamento materno, e quase a metade das mães não conseguiram realizar o aleitamento materno exclusivo e a introdução alimentar de forma oportuna. Destaca-se, ainda, que 33,3% crianças receberam fórmula infantil e 30,5crianças leite de vaca. Conclusão ­ Diante deste cenário, é necessário que exista um acompanhamento dos profissionais da saúde durante a infância de indivíduos com Síndrome de Down, para que o desmame não ocorra precocemente.

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Objective ­ To evaluate breastfeeding practices in children with Down syndrome. Breastfeeding is an essential practice for the development of infants eating habits. The public that has Down Syndrome needs help at this time due to the characteristics resulting from the genetic alteration that can negatively influence the practice. Methods ­ Cross-sectional study, questionnaire directed to mothers of children with Down Syndrome participating in closed groups of Down Syndrome on the social network Facebook®, where socioeconomic characteristics of these women were collected, as well as characteristics of their pregnancy and information relevant to the children. Results ­ It was observed that 44,0% had difficulties in breastfeeding, and almost half of the mothers were unable to perform exclusive breastfeeding and the introduction of food in a timely manner. It is also noteworthy that 33,3% children received an infant family and 30,5 children received cow's milk. Conclusion ­ Given this scenario, it is necessary that there is a monitoring of health professionals during childhood of obligation with Down Syndrome, so that weaning does not occur early.

Asunto(s)

Humanos , Recién Nacido , Lactante , Lactancia Materna , Niño , Síndrome de Down , Mentores , Edad Materna , Leche , Hipotonía Muscular

RESUMEN

Birk-Barel intellectual disability dimorphism syndrome, also referred to as KCNK9 imprinting syndrome, is an exceedingly rare condition described in under 20 cases that presents with intellectual disability, hypotonia, scoliosis, dysphonia, dysphagia, and craniofacial dysmorphic features. The condition follows an autosomal dominant pattern of inheritance in the maternally expressed KCNK9 gene on chromosome 8. Due to the complexity of presentation, patients with Birk-Barel syndrome are optimally managed by a multidisciplinary team including a craniofacial surgeon. Previously described craniofacial dysmorphic features include micrognathia, cleft palate, dolichocephaly, broad nasal tip, and broad philtrum, among others. Here the authors describe a genetically confirmed case that has been managed in our institution's multidisciplinary cleft and craniofacial clinic. The authors aim to discuss Birk-Barel syndrome for a surgical and craniofacial audience with considerations for operative management in the context of a multidisciplinary team.

Asunto(s)

Anomalías Craneofaciales , Discapacidad Intelectual , Canales de Potasio de Dominio Poro en Tándem , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/cirugía , Caracteres Sexuales , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/cirugía , Hipotonía Muscular/genética , Síndrome , Canales de Potasio de Dominio Poro en Tándem/genética

RESUMEN

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.

Asunto(s)

Discapacidad Intelectual , Trastornos del Desarrollo del Lenguaje , Microcefalia , Miopía , Neutropenia , Síndrome de Prader-Willi , Degeneración Retiniana , Humanos , Niño , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/genética , Proteínas de Transporte Vesicular/genética , Microcefalia/diagnóstico , Microcefalia/genética , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Degeneración Retiniana/genética , Miopía/diagnóstico , Miopía/genética , Obesidad/diagnóstico , Obesidad/genética

RESUMEN

C-terminal binding proteins (CtBP1/2) are transcriptional coregulators that play a significant role during vertebrate neurodevelopment. This systematic review aims to identify case reports with genetic variants in CTBP1 and CTBP2 associated with brain development syndromes.We screened different databases (PubMed, Scopus, Google Scholar, LILACS) by systematically searching journals and checking reference lists and citations of background papers. We found fourteen cases (10 males) from five papers carrying two pathogenic, heterozygous variants in the CTBP1 gene (13 individuals carried the missense mutation c.991C T, p.Arg342Trp, and one subject carrying the 2-base pair deletion c.1315_1316delCA, p.Gln439ValfsTer84). These mutations were de novo in 13 cases and one case of maternal germinal mosaicism. Two variants are in the same domain of the protein: Pro-Leu-Asp-Leu-Ser (PLDLS) C terminal. Patients with these mutations exhibit a phenotype with intellectual disability, HADDTS syndrome (hypotonia, ataxia, developmental delay, and tooth enamel defects), and cerebellar volume loss. We did not identify reported cases associated with homozygous mutations harbored in CTBP1. We did not identify any report of neurodevelopment phenotypes associated with heterozygous or homozygous CTBP2 mutations. Due to CTBP2/RIBEYE being a gene with dual function, identifying and interpreting the potential pathogenic variants is challenging.Further, homozygous mutations in the CTBP2 gene may be lethal. The mechanisms involved in the pathogenesis of neurodevelopment due to variants of these proteins have not yet been elucidated, despite some functional evidence. Further studies should be conducted to understand these transcription factors and their interaction with each other and their partners.

Asunto(s)

Oxidorreductasas de Alcohol , Proteínas Co-Represoras , Hipotonía Muscular , Factores de Transcripción , Humanos , Oxidorreductasas de Alcohol/genética , Ataxia/genética , Proteínas Co-Represoras/genética , Hipotonía Muscular/genética , Mutación , Mutación Missense , Factores de Transcripción/genética

Asunto(s)

Anomalías Múltiples , Discapacidad Intelectual , Humanos , Hipotonía Muscular , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Convulsiones

RESUMEN

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.

Asunto(s)

Síndrome de Down , Apnea Obstructiva del Sueño , Bruxismo del Sueño , Trastornos del Sueño-Vigilia , Masculino , Femenino , Humanos , Músculo Masetero , Mialgia/complicaciones , Síndrome de Down/complicaciones , Hipotonía Muscular , Músculos Masticadores , Dolor Facial/complicaciones , Electromiografía

RESUMEN

Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. The syndrome produces an early onset of severe neurological disorder, in which hypotonia predominates. OBJECTIVE: To present a rare case with an unexpected diagnosis, highlighting the usefulness of requesting a complete thyroid profile in every hypotonic male infant without a specific cause. CLINICAL CASE: A 10-month-old male infant with severe axial and peripheral hypotonia, global weakness with little spontaneous mobility, without head support or stable sitting. Complete metabolic and peripheral neurophysiological studies were performed. Genetic studies for spinal muscular atrophy, Prader Willi syndrome, and myotonic dystrophy were also performed. The trio exome analysis detected a probably pathogenic variant c.359C>T;p.(Ser120Phe), hemizygous in exon 1 of the SLC16A2 gene, inherited from the mother. Thyroid abnormalities as increased free triiodothyronine (T3) and thyroid-stimulating hormone (TSH), and delayed myelination were ob served. CONCLUSIONS: MCT8 deficiency should be considered in the case of the male infant with unex plained hypotonia and weakness without a determined cause. The diagnosis is guided by a thyroid profile including free T3 hormone, because it presents a characteristic thyroid profile with decreased free thyroxine (T4), increased free T3, and normal or slightly elevated TSH levels. In this case, the implementation of the trio exome analysis allows establishing an early certain diagnosis.

Asunto(s)

Hipotonía Muscular , Simportadores , Humanos , Lactante , Masculino , Discapacidad Intelectual Ligada al Cromosoma X , Transportadores de Ácidos Monocarboxílicos/genética , Hipotonía Muscular/etiología , Hipotonía Muscular/genética , Atrofia Muscular , Simportadores/genética , Hormonas Tiroideas , Tirotropina

RESUMEN

OBJECTIVE: To describe main motor disorders detected in children with autism spectrum disorder (ASD) and analyze associated clinical variables. PATIENTS AND METHOD: A cross-sectional observatio nal study of 96 children with ASD, median age 4 years (range, 3-9), 32.3% girls, and 18.8% preterm. Children were evaluated at the UC-CHRISTUS Clinical Hospital Neurodevelopmental Unit for three years. We analyzed the relationship between motor signs (stereotypies, delayed gait, and hypo/hyper tonia) and spoken language at 4 years of age. RESULTS: 63.5% of children presented a motor disorder, 33.3% had hand or body motor stereotypies at the time of the evaluation, and 28.1% had delayed gait (> 16 months of corrected gestational age). These children had a higher frequency of absence of spoken language at four years of age (OR = 9.36; 95% CI = 2.67-32.78) than patients without delayed gait. 40.6% of children presented alterations in muscle tone during the first two years of life (32.3% generalized hypotonia and 8.3% generalized hypertonia). A history of generalized hypotonia increases the chance of presenting delayed gait (OR = 2.65; 95% CI = 1.08-6.48) and motor stereo typies (OR = 2.63; 95% CI = 1.04-6.65). CONCLUSIONS: Children with ASD usually develop motor disorders that may precede the diagnosis of the condition. In ASD, infant hypotonia may predict the occurrence of other motor disorders, and delayed gait was associated with spoken language absence in preschool age.

Asunto(s)

Trastorno del Espectro Autista , Trastornos Motores , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/diagnóstico , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Trastornos Motores/complicaciones , Hipotonía Muscular/complicaciones

RESUMEN

In 2017, Mattiolli et al. and Yan et al. described a series of patients with clinical findings essentially characterized by intellectual disabilities, ptosis, hypotonia, epilepsy, and weakness. They also found in these patients distinct heterozygous mutations in the BRPF1 gene, which plays a role in epigenetic regulation by promoting histone acetylation. The disease is known as Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP, OMIM #617333). Later, another 20 patients were also described by distinct reports, suggesting IDDDFP could be a more frequent cause of intellectual disability as it was thought before. Here, we describe a patient with normal intellectual development who had congenital ptosis, hypotonia, muscular weakness, atlanto-axial malformation, and pyramidal at the neurological examination. The patient has a rare nonsense variant on exon 3 of BRPF1 gene. We also describe a phenotypic amplification for conditions related to deficiency in histone modifications.

Asunto(s)

Blefaroptosis , Discapacidad Intelectual , Proteínas Adaptadoras Transductoras de Señales/genética , Blefaroptosis/diagnóstico , Blefaroptosis/genética , Proteínas de Unión al ADN/genética , Epigénesis Genética , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Hipotonía Muscular/genética , Mutación , Síndrome

Asunto(s)

Humanos , Femenino , Preescolar , Parálisis/etiología , Poliomielitis/etiología , Enfermedades Virales del Sistema Nervioso Central/diagnóstico , Enfermedades Virales del Sistema Nervioso Central/tratamiento farmacológico , Hipotonía Muscular , Enfermedades Neuromusculares/diagnóstico , Enfermedades Neuromusculares/terapia , Infecciones del Sistema Respiratorio , Brotes de Enfermedades , Mielitis

RESUMEN

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.

Asunto(s)

Enfermedades del Recién Nacido , Enfermedades Neuromusculares , Antidepresivos/efectos adversos , Humanos , Recién Nacido , Hipotonía Muscular/inducido químicamente

RESUMEN

Hypotonia of the newborn or infant is defined as decreased resistance to passive movement and is a frequent diagnostic challenge in pediatric practice. The hypotonic syndrome is a working diagnosis and its etiology must be identified to determine associated morbidities, prognosis, and management. Rapid advances in bioinformatics and molecular genetic testing allow for early accurate diagnoses in the diagnostic process. Therefore, it is necessary to carry out an updated review on this topic. The objective of this non-systematic narrative review is to describe the diagnostic approach to hypotonic syndrome and its main etiologies. A review of the literature from PubMed and Scielo databases was carried out, including relevant articles in English and Spanish published in the last 15 years. We emphasize the value of the clinical examination and history in locating the cause of hypotonia (cen tral or peripheral) as the first step toward the etiological diagnosis. Systemic diseases such as sepsis, hypoxic-ischemic encephalopathy, heart failure, and metabolic and electrolyte abnormalities are still common causes of central hypotonia. Peripheral hypotonia involves disorders of the anterior horn of the spinal cord, peripheral nerve, neuromuscular junction and muscle, of inherited and acquired origin. The use of images of the central nervous system and muscle and genetic panels and exome, constitute the most recent contributions to the diagnosis of hypotonic syndrome. This article propo ses an initial approach based on the main clinical clues leading to a certain diagnosis. Its therapy is supportive, except for some conditions that require specific treatment.

Asunto(s)

Hipotonía Muscular , Recién Nacido , Humanos , Lactante , Niño , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/etiología , Pronóstico

RESUMEN

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).

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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)

Asunto(s)

Humanos , Saliva , Aparatos Activadores , Terapia por Estimulación Eléctrica , Síndrome de Down , Apnea Obstructiva del Sueño , Hipotonía Muscular