Experiences surrounding the diagnostic process and care among parents of children diagnosed with Phelan– <scp>McDermid</scp> syndrome: A qualitative study-Reference-Cited by-同舟云学术

Experiences surrounding the diagnostic process and care among parents of children diagnosed with Phelan– McDermid syndrome: A qualitative study

Published:2022-12-04 Issue: Volume: Page:
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Develop Med Child Neuro

Author:

García‐Bravo Cristina¹^ORCID,Martínez‐Piédrola Rosa M¹^ORCID,García‐Bravo Sara²^ORCID,Huertas‐Hoyas Elisabet¹^ORCID,Pérez‐De‐Heredia‐Torres Marta¹^ORCID,Palacios‐Ceña Domingo³^ORCID

Affiliation:

1. Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group in Evaluation and Assessment of Capacity, Functionality and Disability of Universidad Rey Juan Carlos (TO+IDI) Universidad Rey Juan Carlos Alcorcón Spain

2. Physiocare Madrid Physiotherapy Clinic Madrid Spain

3. Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos Universidad Rey Juan Carlos Alcorcón Spain

Publisher

Wiley

Subject

Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.15485

Reference58 articles.

1. Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome

2. Anaesthesia and orphan disease

3. Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

4. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

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3. Health care concerns in parents of children with different genetic developmental and epileptic encephalopathies: A qualitative study;Developmental Medicine & Child Neurology;2023-07-21

4. The impact of Phelan– McDermid syndrome on the child and family;Developmental Medicine & Child Neurology;2022-12-25