Dataset Information

Characterizing postural oscillation in children and adolescents with hereditary sensorimotor neuropathy.

ABSTRACT: Charcot Marie Tooth disease (CMT) has negative functional impact on postural control of children; however, it has not been widely studied. Stabilometry can provide insights about postural control and guide preventive interventions in immature perceptual and musculoskeletal systems as those seen in children with CMT. This cross-sectional study aimed to identify and interpret stabilometric variables that reflect the postural control of children with CMT. 53 subjects (age 6-17) were assigned to one of the two groups: CMT (15 males and 14 females with CMT) or Control (13 males and 11 females healthy). Quiet standing was tested in different conditions: with open and closed eyes on regular surface (open-regular, closed-regular) and foam surface (open-foam, closed-foam) using a force platform. The minimum of 2 and maximum of 3 trials of 30 seconds for each test condition provided the classical stabilometric variables and Romberg Quotient (RQv). CMT group showed increase of confidence ellipse area, mean velocity, mediolateral and anteroposterior velocities associated with decreased mean body oscillation frequency, as the complexity of tasks increased. CMT postural deficit was identified by greater and faster sway associated with these lower frequencies, when compared to Control.

SUBMITTER: Alves de Baptista CRJ

PROVIDER: S-EPMC6179247 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Characterizing postural oscillation in children and adolescents with hereditary sensorimotor neuropathy.

Alves de Baptista Cyntia Rogean de Jesus CRJ Nascimento-Elias Adriana A Lemos Tenysson Will TW Garcia Beatriz B Calori Paula Domingues PD Mattiello-Sverzut Ana Claudia AC

PloS one 20181010 10

Charcot Marie Tooth disease (CMT) has negative functional impact on postural control of children; however, it has not been widely studied. Stabilometry can provide insights about postural control and guide preventive interventions in immature perceptual and musculoskeletal systems as those seen in children with CMT. This cross-sectional study aimed to identify and interpret stabilometric variables that reflect the postural control of children with CMT. 53 subjects (age 6-17) were assigned to one ...[more]

PMID: 30304007

Similar Datasets

Project description:Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances) are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7) identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra neuropathy, or decaying skin tumours like amelanotic melanoma. Management of HSN I follows the guidelines given for diabetic foot care (removal of pressure to the ulcer and eradication of infection, followed by the use of specific protective footwear) and starts with early and accurate counselling of patients about risk factors for developing foot ulcerations. The disorder is slowly progressive and does not influence life expectancy but is often severely disabling after a long duration of the disease.

Dataset Information

Characterizing postural oscillation in children and adolescents with hereditary sensorimotor neuropathy.

Publications

Characterizing postural oscillation in children and adolescents with hereditary sensorimotor neuropathy.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure