Evidence map›Paper›PMID 35840778›Full record

ArticleEuropean journal of pediatrics2022

Sensory processing and adaptive behavior in Phelan-McDermid syndrome: a cross-sectional study.

Sergio Serrada-Tejeda, María-Luz Cuadrado, Rosa Mª Martínez-Piédrola, Nuria Máximo-Bocanegra, Patricia Sánchez-Herrera-Baeza, Lucía Rocío Camacho-Montaño, Marta Pérez-de-Heredia-Torres

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 34% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Updated consensus guidelines on the management of Phelan-McDermid syndrome.American journal of medical genetics. Part A · 2023
    Review
  5. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Sergio Serrada-TejedaDepartment of Physical Therapy, Occupational Therapy, Rehabilitation and Physical Medicine, Avenida de Atenas s/n. CP.28922, Rey Juan Carlos University, Alcorcón, Madrid, Spain.
María-Luz CuadradoDepartment of Neurology, Hospital Clínico San Carlos, Madrid, Spain.
Rosa Mª Martínez-PiédrolaDepartment of Physical Therapy, Occupational Therapy, Rehabilitation and Physical Medicine, Avenida de Atenas s/n. CP.28922, Rey Juan Carlos University, Alcorcón, Madrid, Spain. rosa.martinez@urjc.es.ORCID http://orcid.org/0000-0001-9684-6876
Nuria Máximo-BocanegraDepartment of Physical Therapy, Occupational Therapy, Rehabilitation and Physical Medicine, Avenida de Atenas s/n. CP.28922, Rey Juan Carlos University, Alcorcón, Madrid, Spain.
Patricia Sánchez-Herrera-BaezaDepartment of Physical Therapy, Occupational Therapy, Rehabilitation and Physical Medicine, Avenida de Atenas s/n. CP.28922, Rey Juan Carlos University, Alcorcón, Madrid, Spain.
Lucía Rocío Camacho-MontañoDepartment of Physical Therapy, Occupational Therapy, Rehabilitation and Physical Medicine, Avenida de Atenas s/n. CP.28922, Rey Juan Carlos University, Alcorcón, Madrid, Spain.
Marta Pérez-de-Heredia-TorresDepartment of Physical Therapy, Occupational Therapy, Rehabilitation and Physical Medicine, Avenida de Atenas s/n. CP.28922, Rey Juan Carlos University, Alcorcón, Madrid, Spain.
Universidad Rey Juan Carlos · ESUniversidad Complutense de Madrid · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Phelan-McDermid syndrome (PMS) is a genetic disorder caused by a mutation or deletion of the SHANK3 gene (chromosome 22q13.3), characterized by different sensory processing anomalies. The objective of this study is to expand and provide a detailed definition of the sensory profile of patients with PMS. The secondary objective was to examine the relationship between sensory patterns and adaptive behavior. A cross-sectional study was carried out among 51 Spanish patients with a confirmed genetic diagnosis of PMS. All the participants' parents completed the Short Sensory Profile-Spanish (SSP-S) and the Adaptive Behavior Assessment System II (ABAS-II). Correlational, multiple regression and hierarchical cluster analyses were performed. An atypical sensory profile was identified in almost 75% of PMS patients. Definite differences were found among scores; nonetheless, sub-threshold values were observed in tactile sensitivity, underresponsive/seeks sensation, auditory filtering, and low energy/weak sensory categories. Conceptual, social, and practical domains, as well as the General Adaptive Composite (GAC) of the ABAS-II showed extremely low scores (i.e., <70). Significant correlations were found (p<0.005) between SSP-S scores and the conceptual, social, practical, and GAC index of the ABAS-II, whereby higher SSP-S scores were associated with better skills and higher adaptive performance. The cluster analysis indicated that the group with the largest mutation size (7.23 Mb) showed the greatest sensory processing difficulties and very low adaptive skills.

conclusionsPatients with PMS show an atypical sensory profile, which correlates with limitations in general adaptive behaviors. WHAT IS KNOWN: • PMS sensory processing difficulties were associated with a pattern of underresponsive/seeks sensation, low energy/weak, and tactile hyporeactivity. • Sensory processing difficulties have been associated with limitations in the development of appropriate adaptive communication and interaction behaviors. WHAT IS NEW: • Sensory definite differences associated with tactile hyperreactivity, as well as significant effects of underresponsiveness/seeks sensation and auditory filtering categories on the adaptive abilities were found in SHANK3

Indexed as

Chromosome DisordersAdaptation, PsychologicalChromosome DeletionChromosomes, Human, Pair 22Cross-Sectional StudiesHumansPerceptionPhenotypeSensationAdaptive behaviorAutismPhelan-McDermid syndromeSensory processingSHANK3

Identifiers

PMID35840778
PMCPMC9352617
OpenAlexW4285590597

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.