(1) Background: 5p minus Syndrome (S5p-) is a neurodevelopmental disorder caused by a deletion in the short arm of chromosome 5. Among the phenotypic characteristics of S5p-, the most characteristic ...and representative element is a monochromatic cry with a high-pitched tone reminiscent of a cat’s meow. Individuals may also show great phenotypic heterogeneity and great genetic variability. Regarding cognitive–behavioral aspects of the syndrome, the studies are scarce and do not establish a general profile of the main cognitive–behavioral particularities that this syndrome presents. The main objective of this work was to describe the development profile of a cohort of 45 children with 5p minus Syndrome, concerning the biomedical, genetic, cognitive, and behavioral aspects. Establishing putative genotype–phenotype (cognitive–behavioral profiles) relationships in our cohort, from an interdisciplinary approach. (2) Methods: A selection of instruments of measures was selected for neuropsychological assessment (3) Results: In general, children with S5p- have a higher cognitive level than a communicative and motor level. Language difficulties, especially expressive ones, influence the frequency and severity of the most frequent behavioral problems in S5p. The most significant problem behavior of children with S5p-, especially girls, is self-harm. Compulsive behavior, limited preferences, and interest in monotony are significantly more frequent in subjects with better cognitive levels. We also find a significant correlation between the size of the loss of genetic material on 5p and the cognitive level of the subjects. (4) Conclusions: We described for the first time, the cognitive–behavioral profile of a cohort of minors with S5p-. Remarkably, it was found that language, especially of an expressive nature, modulates the most frequent behavioral aspects in subjects with lower cognitive levels, so it is essential to develop verbal or alternative communication strategies adjusted to these individuals.
El proceso de acogida hace referencia a diferentes actuaciones y procedimientos que tienen por objeto proporcionar a la persona que comienza la información y apoyos necesarios para facilitar el ...acceso a una institución. En el ámbito de la educación superior, y concretamente en la docencia universitaria, la acogida no ha sido un tema de interés y las experiencias en este sentido son escasas. El documento describe el proceso de análisis de necesidades del profesorado novel en una institución universitaria a partir de un grupo de discusión y la recogida de información posterior mediante cuestionario. Los datos ponen de manifiesto la importancia de una buena acogida, acompañada de la entrega de información imprescindible, así como la implementación de programas de mentoría para el bienestar personal del docente universitario.
Chromosome-5p minus syndrome (5p-Sd, OMIM #123450) formerly known as
Cri du Chat
syndrome results from the loss of genetic material at the distal region of the short arm of chromosome 5. It is a ...neurodevelopmental disorder of genetic cause. So far, about 400 patients have been reported worldwide. Individuals affected by this syndrome have large phenotypic heterogeneity. However, a specific phenotype has emerged including global developmental delay, microcephaly, delayed speech, some dysmorphic features, and a characteristic and monochromatic high-pitch voice, resembling a cat’s cry. We here describe a cohort of 70 patients with clinical features of 5p- Sd characterized by means of deep phenotyping, SNP arrays, and other genetic approaches. Individuals have a great clinical and molecular heterogeneity, which can be partially explained by the existence of additional significant genomic rearrangements in around 39% of cases. Thus, our data showed significant statistical differences between subpopulations (simple 5p deletions versus 5p deletions plus additional rearrangements) of the cohort. We also determined significant “functional” differences between male and female individuals.
BACKGROUND // Wolf-Hirschhorn syndrome is a rare disease of genetic origin caused by the deletion of the distal end of chromosome
4, including at least the region p16.3. The objectives of this work ...were to determine the prevalence of the disease in the Spanish
population, as well as to establish the geographical distribution of the syndrome throughout the Spanish geography, elucidating the
age range in which there are more patients.
METHODS // Patients diagnosed with the disease for nine years (2013-2021) throughout the Spanish territory were recruited for the
research, thanks to agreements with the Spanish Association of Wolf-Hirschhorn Syndrome (AESWH). The clinical information of the
patients was obtained from referring physicians using two standardized questionnaires completed with data from medical reports and
the parent interview. The molecular characterization of the disease was made using SNP (single nucleotide polymorphism) microarrays
(cytoSNP850K, Illumina, USA). The data were statistically processed using Microsoft Excel (Microsoft Corporation) and SPSS (IBM) software,
using comparisons between two groups s with Student’s t-test (for continuous variables) or with Chi-square tests (for categorical ones).
For more than two groups, ANOVA analyses were performed (followed by Bonferroni or T3-Dunnett post hoc tests) for continuous variables
and z-tests between column proportions for categorical variables.
RESULTS // In Spain (until 2021) eighty people are diagnosed with this syndrome, estimating its prevalence at 1.69x10-4 per 10,000
inhabitants and / or 1/172,904 for each live newborn. This paper remarks the existence of important differences in prevalence between
the different regions in Spain. The region with the most diagnosed patients was Madrid, although the highest prevalence was observed
in Asturias. Significant differences have been established in terms of sex and disease (ratio of women to men of 2:1), and the mean
age at diagnosis has been established at 7.20 years.
CONCLUSIONS // The prevalence of this syndrome in Spain has been estimated well below the prevalence that is handled in scientific
texts (1/50,000 newborns). In addition, we have determined that this prevalence shows large geographical differences, which
allows us to affirm that this syndrome could be under-diagnosed in our country. Most of the patients included in this cohort are of
paediatric age. It has not been possible to corroborate that mortality in this syndrome, in our population, occurs preferably during
the first two years of life, as has been claimed.
FUNDAMENTOS // El Síndrome de Wolf-Hirschhorn es una enfermedad poco frecuente de origen genético causada por la deleción
del extremo distal del cromosoma 4, que incluye preferentemente la región p16.3. Los objetivos de este trabajo fueron determinar la
prevalencia de la enfermedad en la población española, así como establecer la distribución geográfica del síndrome a lo largo de la
geografía nacional, dilucidando el rango de edad en el que existían más pacientes afectados.
MÉTODOS // Para la investigación se reclutaron 80 pacientes diagnosticados con el síndrome en el periodo 2013-2021, en todo el
territorio español, gracias a los acuerdos con la Asociación Española de Síndrome Wolf-Hirschhorn (AESWH). La información clínica
de los pacientes se obtuvo mediante dos cuestionarios estandarizados que fueron cumplimentados por médicos de referencia y
los padres, siendo completados y corroborados con los distintos informes médicos de cada paciente y, al menos, una entrevista
una entrevista a los padres. La caracterización molecular de la enfermedad se realizó mediante el uso de microarrays de SNP
(del inglés, single nucleotide polymorphism) (CytoSNP 850K, Illumina). Los datos se trataron estadísiticamente utilizando los softwares
Microsoft Excel (Microsoft Corporation) y SPSS (IBM), mediante las comparaciones entre dos grupos s con la prueba t de Student
(para variables continuas) o con pruebas de Chi cuadrado (para las categóricas). Para más de dos grupos se realizó análisis ANOVA
(seguido de las pruebas post hoc de Bonferroni o T3-Dunnett) para variables continuas y pruebas z entre proporciones de columna
para variables categóricas.
RESULTADOS // En España (hasta 2021) están diagnosticadas ochenta personas con este síndrome, estimándose su prevalencia en
1,69x10-4 por cada 10.000 habitantes y/o 1/172.904 por cada recién nacido vivo. En este trabajo se constató la existencia de importantes
diferencias de prevalencia entre las comunidades autónomas de nuestro país. La comunidad con más pacientes diagnosticados fue
Madrid, aunque la mayor prevalencia se observó en Asturias. Se establecieron diferencias estadísticamente significativas en cuanto al
sexo y la enfermedad (proporción de mujeres sobre varones de 2:1), así como se estableció la edad media al diagnóstico en 7,20 años.
CONCLUSIONES // La prevalencia de este síndrome en España se estima muy por debajo de la prevalencia que se maneja en los
textos científicos (1 por cada 50.000 recién nacidos). Adicionalmente, hemos determinado que esta prevalencia muestra grandes diferencias
geográficas, lo que nos permite afirmar que este síndrome podría encontrarse infra-diagnosticado en nuestro país. La mayor
parte de los pacientes incluidos en esta cohorte se encuentran en edad pediátrica. No se ha podido corroborar que la mortalidad
en este síndrome, en nuestra población, ocurra preferentemente durante los dos primeros años de vida, como se venía afirmando.
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the
gene.
...codes for a structural protein that plays a central role in the formation of the postsynaptic terminals and the maintenance of synaptic structures. Clinically, patients with PMS often present with global developmental delay, absent or severely delayed speech, neonatal hypotonia, minor dysmorphic features, and autism spectrum disorders (ASD), among other findings. Here, we describe a cohort of 210 patients with genetically confirmed PMS. We observed multiple variant types, including a significant number of small deletions (<0.5 Mb, 64/189) and
sequence variants (21 cases). We also detected multiple types of rearrangements among microdeletion cases, including a significant number with post-zygotic mosaicism (9.0%, 17/189), ring chromosome 22 (10.6%, 20/189), unbalanced translocations (
or inherited, 6.4%), and additional rearrangements at 22q13 (6.3%, 12/189) as well as other copy number variations in other chromosomes, unrelated to 22q deletions (14.8%, 28/189). We compared the clinical and genetic characteristics among patients with different sizes of deletions and with
variants
Our findings suggest that
plays an important role in this syndrome but is probably not uniquely responsible for all the spectrum features in PMS. We emphasize that only an adequate combination of different molecular and cytogenetic approaches allows an accurate genetic diagnosis in PMS patients. Thus, a diagnostic algorithm is proposed.
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