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The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

ABSTRACT: The spectrum of peroxisomal disorders is wide and comprises individuals that die in the first year of life, as well as people with sensorineural hearing loss, retinal dystrophy and amelogenesis imperfecta. In this article, we describe three patients; two diagnosed with Heimler syndrome and a third one with a mild-intermediate phenotype. We arrived at these diagnoses by conducting complete ophthalmic (National Eye Institute), auditory (National Institute of Deafness and Other Communication Disorders), and dental (National Institute of Dental and Craniofacial Research) evaluations, as well as laboratory and genetic testing. Retinal degeneration with macular cystic changes, amelogenesis imperfecta, and sensorineural hearing loss were features shared by the three patients. Patients A and C had pathogenic variants in PEX1 and Patient B, in PEX6. Besides analyzing these cases, we review the literature regarding mild peroxisomal disorders, their pathophysiology, genetics, differential diagnosis, diagnostic methods, and management. We suggest that peroxisomal disorders are considered in every child with sensorineural hearing loss and retinal degeneration. These patients should have a dental evaluation to rule out amelogenesis imperfecta as well as audiologic examination and laboratory testing including peroxisomal biomarkers and genetic testing. Appropriate diagnosis can lead to better genetic counseling and management of the associated comorbidities.

SUBMITTER: Daich Varela M

PROVIDER: S-EPMC8117942 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

Daich Varela Malena M Jani Priyam P Zein Wadih M WM D'Souza Precilla P Wolfe Lynne L Chisholm Jennifer J Zalewski Christopher C Adams David D Warner Blake M BM Huryn Laryssa A LA Hufnagel Robert B RB

American journal of medical genetics. Part C, Seminars in medical genetics 20200831 3

The spectrum of peroxisomal disorders is wide and comprises individuals that die in the first year of life, as well as people with sensorineural hearing loss, retinal dystrophy and amelogenesis imperfecta. In this article, we describe three patients; two diagnosed with Heimler syndrome and a third one with a mild-intermediate phenotype. We arrived at these diagnoses by conducting complete ophthalmic (National Eye Institute), auditory (National Institute of Deafness and Other Communication Disord ...[more]

PMID: 32866347

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Project description:Background/objectivesMindfulness-based interventions (MBIs) have emerged in recent years as a strong candidate for the treatment of a range of difficulties faced by individuals with autism spectrum disorder (ASD), including cognitive, emotional, and social aspects. Therefore, we aimed to conduct a review that systematically examined the efficacy of MBIs for individuals with ASD and their caregivers.MethodsThis systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Our literature search was conducted within the MEDLINE database. We included in the review only longitudinal or intervention studies focusing mainly on mindfulness principles, while we excluded mixed intervention studies. We only included studies that explicitly utilized quantitative methodologies for evaluating the outcomes of the interventions, including mental health indices (e.g., stress, anxiety, depression) and assessments of cognitive and social skills (e.g., attention, prosociality). We conducted also a risk of bias assessment through the method of the Cochrane risk of bias tool for intervention studies ROBINS-I.ResultsThirty-seven studies were included in the review, and we grouped the studies by the targets of the interventions, i.e., adults (n = 12), children and adolescents (n = 9), caregivers and medical staff (n = 13), and combined intervention for both children/adolescents and their parents/caregivers (n = 5). The reviewed papers seem to support the feasibility and utility of mindfulness interventions for persons with ASD and their caregivers, but any recommendations based on this body of evidence should be made with caution due to the overall low quality of the studies conducted so far.ConclusionsThe review reveals a positive outcome, including the alleviation of psychological distress, reduced behavioral problems, and enhanced cognitive and social skills in individuals with ASD. Despite such promising results, the review notes a limitation in the scarcity of MBIs for young patients, emphasizing caution in universally endorsing the existing literature. Moreover, the results underline the urgency of the exploration of tailored interventions for different ASD subgroups, considering varying levels of autism, and expanding support to teachers in educational settings.

Dataset Information

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

Publications

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

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