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Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability
(2020)
REPETTO LISBOA, MARIA GABRIELA
2Scopus© Citations 2
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Evaluación de la accesibilidad para sistemas de transporte subterráneo: análisis del metro de Santiago - Chile
(2023)
Liborio Navas
;
VALDERRAMA ULLOA, CLAUDIA ALEJANDRA
;
FERRADA CALVO, XIMENA VERÓNICA
;
CONTRERAS ROMO, JORGE SEBASTIÁN
;
Zulay Gimenez
Considering that a significant part of the world's population lives with some disability and life expectancy is increasing, accessible transportation would allow people to improve their quality of life and access more socioeconomic opportunities. Based on a mixed descriptive design (qualitative, ethnographic, and quantitative), this article presents a tool for evaluating the level of accessibility to subway trains for people with visual, physical, cognitive, and hearing disabilities. Data from 30 Metro stations in Santiago de Chile were analyzed, studying movements into the station, permanence in the payment area, and movements toward platforms and connecting lines. Among the indicators evaluated, those related to getting to the platform have the lowest levels of accessibility, as they do not meet all the needs of the different types of disabilities analyzed.
2
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PUF60‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants
(2023)
H. Grimes
;
M. Ansari
;
T. Ashraf
;
Anna Mª. Cueto‐González
;
A. Calder
<jats:title>Abstract</jats:title><jats:p><jats:italic>PUF60</jats:italic>‐related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of <jats:italic>PUF60</jats:italic>, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed. While less common than other features associated with <jats:italic>PUF60</jats:italic>‐related developmental disorder, for instance hearing impairment and short stature, identification of specific anomalies such as ophthalmic coloboma can aid with diagnostic identification given the limited spectrum of genes linked with this feature. We describe 10 patients with <jats:italic>PUF60</jats:italic> gene variants, bringing the total number reported in the literature, to varying levels of details, to 56 patients. Patients were recruited both via locally based exome sequencing from international sites and from the DDD study in the United Kingdom. Eight of the variants reported were novel <jats:italic>PUF60</jats:italic> variants. The addition of a further patient with a reported c449‐457del variant to the existing literature highlights this as a recurrent variant. One variant was inherited from an affected parent. This is the first example in the literature of an inherited variant resulting in <jats:italic>PUF60</jats:italic>‐related developmental disorder. Two patients (20%) were reported to have a renal anomaly consistent with 22% of cases in previously reported literature. Two patients received specialist endocrine treatment. More commonly observed were clinical features such as: cardiac anomalies (40%), ocular abnormalities (70%), intellectual disability (60%), and skeletal abnormalities (80%). Facial features did not demonstrate a recognizable gestalt. Of note, but remaining of unclear causality, we describe a single pediatric patient with pineoblastoma. We recommend that stature and pubertal progress should be monitored in <jats:italic>PUF60</jats:italic>‐related developmental disorder with a low threshold for endocrine investigations as hormone therapy may be indicated. Our study reports an inherited case with <jats:italic>PUF60</jats:italic>‐related developmental disorder which has important genetic counseling implications for families.</jats:p>
Scopus© Citations 5 1
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Breaking Down Barriers: Findings from a Literature Review on Housing for People with Disabilities in Latin America
(2023)
VALDERRAMA ULLOA, CLAUDIA ALEJANDRA
;
FERRADA CALVO, XIMENA VERÓNICA
;
Felipe Herrera
Accessibility to housing is crucial for people with disabilities as it provides them with equal opportunities and allows them to live independently. A systematic literature review has been conducted to understand the current research on accessibility in housing for people with disabilities in Latin America. The study analysed 56 papers and used co-word analysis to identify common themes and topics within the documents. The results of the analysis showed that Brazil (61%) is the country with the most research on the subject, physical disability, at 36%, is the impairment most analysed, and interventions or analysis for the older people (45%) in their homes is the most researched type of population. The co-word analysis revealed that topics such as policy, regulations, the use of technologies, ergonomics interventions, and architectural criteria or barriers to the daily life of disabled people were frequently discussed in the papers. Although this work shows a substantial and growing increase in research on housing for people with disabilities in Latin America, it also demonstrates the importance of increasing research on other types of impairment, such as visual and cognitive-intellectual disabilities, and including children, caregivers, or even young adults.
Scopus© Citations 3 9
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Clinical, neuroimaging, and molecular spectrum of
TECPR2
‐associated hereditary sensory and autonomic neuropathy with intellectual disability
(2021)
Sonja Neuser
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Barbara Brechmann
;
Gali Heimer
;
Ines Brösse
;
Susanna Schubert
25Scopus© Citations 20
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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
(2020)
Robert W. Davies
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Ania M. Fiksinski
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Elemi J. Breetvelt
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Nigel M. Williams
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Stephen R. Hooper
8Scopus© Citations 101
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Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
(2022)
Katrine M. Johannesen
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Sumaiya Iqbal
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Milena Guazzi
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Nazanin A. Mohammadi
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PEREZ PALMA, EDUARDO ESTEBAN
Scopus© Citations 16 2
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Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
(2022)
Álvaro Beltrán-Corbellini
;
Ángel Aledo-Serrano
;
Rikke S. Møller
;
Eduardo Pérez-Palma
;
Irene García-Morales
<jats:p>This review aims to provide an updated perspective of epilepsy genetics and precision medicine in adult patients, with special focus on developmental and epileptic encephalopathies (DEEs), covering relevant and controversial issues, such as defining candidates for genetic testing, which genetic tests to request and how to interpret them. A literature review was conducted, including findings in the discussion and recommendations. DEEs are wide and phenotypically heterogeneous electroclinical syndromes. They generally have a pediatric presentation, but patients frequently reach adulthood still undiagnosed. Identifying the etiology is essential, because there lies the key for precision medicine. Phenotypes modify according to age, and although deep phenotyping has allowed to outline certain entities, genotype-phenotype correlations are still poor, commonly leading to long-lasting diagnostic odysseys and ineffective therapies. Recent adult series show that the target patients to be identified for genetic testing are those with epilepsy and different risk factors. The clinician should take active part in the assessment of the pathogenicity of the variants detected, especially concerning variants of uncertain significance. An accurate diagnosis implies precision medicine, meaning genetic counseling, prognosis, possible future therapies, and a reduction of iatrogeny. Up to date, there are a few tens of gene mutations with additional concrete treatments, including those with restrictive/substitutive therapies, those with therapies modifying signaling pathways, and channelopathies, that are worth to be assessed in adults. Further research is needed regarding phenotyping of adult syndromes, early diagnosis, and the development of targeted therapies.</jats:p>
36Scopus© Citations 24
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Criteria-based Content Analysis in True and Simulated Victims with Intellectual Disability
(2019)
Antonio L. Manzanero
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M. Teresa Scott
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Rocío Vallet
;
Javier Aróztegui
;
Ray Bull
6Scopus© Citations 8
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Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations
(2015)
Lorena Santa María
;
Víctor Faundes
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Bianca Curotto
;
Paulina Morales
;
Karla Morales
4Scopus© Citations 4

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