Dataset Information

Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre.

ABSTRACT:

Background

Hereditary sensory and autonomic neuropathies (HSANs) are a group of heterogeneous genetic disorders presenting predominantly with sensory and autonomic dysfunction. They are a diverse group of diseases of the peripheral nervous system characterized by profound distal sensory loss and various autonomic and motor disturbances.

Objectives

The primary objective of this study was to describe the clinical presentation of children with HSAN to paediatricians. We present clinical features and genetic etiology of patients with HSAN followed in a Canadian tertiary paediatric centre, including suggestions for their monitoring, management, and long-term follow-up.

Methods

A retrospective chart review of all patients with HSAN followed from the years 2000 through 2021 was performed. Collected data consisted of patients' demographics, clinical characteristics, imaging, and management.

Results

Eight patients were included. The average age at diagnosis was 3.19 ± 2.83 years. Insensitivity to pain (100%), dysautonomia (100%), global development delay (87.5%), emesis (62.5%), and self-injury (62.5%) were the most prevalent manifestations of HSAN. The most common co-morbidities were gastroesophageal reflux disease (50%), obstructive sleep apnea (37.5%), attention-deficit hyperactivity disorder (37.5%), and iron deficiency (37.5%). Management was multi-disciplinary, involving neurologists, orthopeds, developmental paediatricians, sleep specialists, and psychiatrists.

Conclusion

HSANs are a diverse group of diseases, characterized by profound distal sensory loss, acral mutilations, and variable autonomic disturbances. It is important to recognize the diagnosis in the paediatrician's office in order to set up surveillance and prevent complications.

SUBMITTER: Reddi R

PROVIDER: S-EPMC10156922 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature

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Publications

Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre.

Reddi Renitha R Horvath Gabriella A GA

Paediatrics & child health 20221216 2

<h4>Background</h4>Hereditary sensory and autonomic neuropathies (HSANs) are a group of heterogeneous genetic disorders presenting predominantly with sensory and autonomic dysfunction. They are a diverse group of diseases of the peripheral nervous system characterized by profound distal sensory loss and various autonomic and motor disturbances.<h4>Objectives</h4>The primary objective of this study was to describe the clinical presentation of children with HSAN to paediatricians. We present clini ...[more]

PMID: 37151924

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Project description:BackgroundHereditary motor and sensory neuropathy (HMSN) refers to a group of inherited progressive peripheral neuropathies characterized by reduced nerve conduction velocity with chronic segmental demyelination and/or axonal degeneration. HMSN is highly clinically and genetically heterogeneous with multiple inheritance patterns and phenotypic overlap with other inherited neuropathies and neurodegenerative diseases. Due to this high complexity and genetic heterogeneity, this study aimed to elucidate the genetic causes of HMSN in Pakistani families using Whole Exome Sequencing (WES) for variant identification and Sanger sequencing for validation and segregation analysis, facilitating accurate clinical diagnosis.MethodsFamilies from Khyber Pakhtunkhwa with at least two members showing HMSN symptoms, who had not previously undergone genetic analysis, were included. Referrals for genetic investigations were based on clinical features suggestive of HMSN by local neurologists. WES was performed on affected individuals from each family, with Sanger sequencing used to validate and analyze the segregation of identified variants among family members. Clinical data including age of onset were assessed for variability among affected individuals, and the success rate of genetic diagnosis was compared with existing literature using proportional differences and Cohen's h.ResultsWES identified homozygous pathogenic variants in GDAP1 (c.310 + 4 A > G, p.?), SETX (c.5948_5949del, p.(Asn1984Profs*30), IGHMBP2 (c.1591 C > A, p.(Pro531Thr) and NARS1 (c.1633 C > T, p.(Arg545Cys) as causative for HMSN in five out of nine families, consistent with an autosomal recessive inheritance pattern. Additionally, in families with HMSN, a SETX variant was found to cause cerebellar ataxia, while a NARS1 variant was linked to intellectual disability. Based on American College of Medical Genetics and Genomics criteria, the GDAP1 variant is classified as a variant of uncertain significance, while variants in SETX and IGHMBP2 are classified as pathogenic, and the NARS1 variant is classified as likely pathogenic. The age of onset ranged from 1 to 15 years (Mean = 5.13, SD = 3.61), and a genetic diagnosis was achieved in 55.56% of families with HMSN, with small effect sizes compared to previous studies.ConclusionsThis study expands the molecular genetic spectrum of HMSN and HMSN plus type neuropathies in Pakistan and facilitates accurate diagnosis, genetic counseling, and clinical management for affected families.

Dataset Information

Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre.

Background

Objectives

Methods

Results

Conclusion

Publications

Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre.

Similar Datasets

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