Search results for "development disorders"

Cortisol response to stress in caregivers of offspring with autism spectrum disorder is associated with care recipient characteristics.

2013

Providing care for people with autism spectrum disorder (ASD) is particularly stressful and frequently associated with disturbances in the hypothalamic-pituitary-adrenal (HPA) axis of the caregiver. This study examined whether the stress response is modulated by factors such as age of the care recipient and number of years spent by the caregiver in providing care for the ASD individual. Caregivers of children (n = 15), adolescents (n = 12), and adults (n = 11) with ASD were exposed to two episodes of acute psychosocial stressor in a 1 day session. Salivary cortisol samples were obtained before, during, and after the stressor episodes. Psychological characteristics (states of anxiety, anger,…

Audiovisual speech perception in children with developmental language disorder in degraded listening conditions.

2013

Purpose The effect of the signal-to-noise ratio (SNR) on the perception of audiovisual speech in children with and without developmental language disorder (DLD) was investigated by varying the noise level and the sound intensity of acoustic speech. The main hypotheses were that the McGurk effect (in which incongruent visual speech alters the auditory speech percept) would be weaker for children with DLD than for controls and that it would get stronger with decreasing SNR in both groups. Method The participants were 8-year-old children with DLD and a sample of children with normal language development. In the McGurk stimuli, the consonant uttered by the voice differed from that articulated …

Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases

2015

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a rare genetic disorder first diagnosed in 1981. Kabuki make-up syndrome (KMS) is a multiple malformation/intellectual disability syndrome that was first described in Japan but is now reported in many other ethnic groups. KMS is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; intellectual disability; and short stature. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. The KS is associated wi…

Management of children with autism spectrum disorder in the dental setting

2013

Objectives: This article reviews the present literature on the issues encountered while coping with children with autistic spectrum disorder from the dental perspective. The autistic patient profile and external factors affecting the oral health status of this patient population are discussed upon the existing body of evidence. Material and Methods: The MEDLINE database was searched using the terms ‘Autistic Disorder’, ‘Behaviour Control/methods’, ‘Child’, ‘Dental care for disabled’, ‘Education’, ‘Oral Health’, and ‘Pediatric Dentistry’ to locate related articles published up to January 2013. Results: Most of the relevant studies indicate poor oral hygiene whereas they are inconclusive rega…

A case of femoral-facial syndrome in a patient with autism spectrum disorders.

2011

The Femoral hypoplasia - unusual facies syndrome (FHUF) or Femoral - facial syndrome (FFS) was at first described in 1975. Up to now about 60 cases have been reported. According to our knowledge only 4 cases have had congenital central nervous system's malformations, furthermore the main stages of psychomotor development are almost always reported as normal or slightly altered in early childhood. We describe the first case of autism spectrum disorders (ASD) in a patient with FFS, emphasizing that this rare association could be one of many unrecognized underlying features.

[The importance of socio-cultural factors for the development of speech and language].

2004

Factors determining the efficiency of logopaedic care of children in Poland.

2000

The purpose of this article is to establish factors which determine the efficiency of the system of care provided to children with speech disorders attending regular schools and kindergartens. The analysis was made using Poland as an example, which, similar to other countries, has made some achievements in this matter. Although Poland has had an institutionalised care system for children with speech development anomalies for 30 years, the problem of speech disorders is still very difficult to solve. Due to the large scale of the phenomenon among Polish children, this problem can be defined as a social problem in this country. The above-described situation makes it necessary to search for me…

In search of a science-based application: A learning tool for reading acquisition

2009

This is a story about the fate of a psychological application: from its conception to the optimistic vision surrounding its future. We hope that this application - an enjoyable learning game (www or mobile phone-based, available free of charge to the end users) for children - can at best help millions of children in their reading acquisition in the future. Its basis was created by following intensively the development of children with (N = 107) and without (N = 92) genetic (familial) risk for dyslexia from birth to puberty in the Jyväskylä Longitudinal study of Dyslexia (JLD)-project. We summarize some of the major findings of the JLD in order to facilitate understanding of the reasons and …

Reading development subtypes and their early characteristics.

2007

The present findings are drawn from the Jyväskylä Longitudinal Study of Dyslexia (JLD), in which approximately 100 children with familial risk of dyslexia and 100 control children have been followed from birth. In this paper we report data on the reading development of the JLD children and their classmates, a total of 1,750 children from four measurement points during the first two school years. In the total sample, we examined whether heterogeneous developmental paths can be identified based on profiles of word recognition and reading comprehension. Secondly, we studied what kind of early language and literacy skill profiles and reading experiences characterize the children with differing …

Skraban‐Deardorff syndrome: Six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype

2021

International audience; Skraban-Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphic features. Here, we report on six novel heterozygous de novo pathogenic variants in WDR26 in six probands. The patients’ phenotypes were consistent with original publication. One patient displayed marked hypotonia with an abnormal muscle biopsy; this finding warrants further investigation. Gait must be closely monitored, in order to highlight any muscul…