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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An index of children's physical appearance and personal care was developed and used to assess youngsters with autism who lived (a) at home, (b) in an established group home, (c) in new group homes, and (d) in a large institution. Subsequently, a multiple baseline design across participants documented major changes in personal appearance and cleanliness when children moved from an institution to community-based, family-style group homes. Finally, data-based feedback generated by the appearance index was used as a training tool enabling group home staff to further improve child appearance. This research demonstrates how an evaluation instrument can be used to obtain comparative data, measure some effects of different residential placements, and provide ongoing feedback to caregivers to promote high standards of personal care among persons with severe developmental disabilities.
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PMID:Assessing and improving child care: a personal appearance index for children with autism. 207 37

In a continuing twin study of autism in Scandinavia and Finland, moderately mentally retarded triplets fulfilling Rutter's criteria for infantile autism were reported. Judging by physical appearance the triplets were identical. Behaviourally they were extremely similar though one was intellectually slightly better than the other two. All three showed the physical stigmata characteristic of the fragile-X syndrome, in spite of their overall appearance being non-conspicuous. The triplets had between 8 and 12 per cent of fragile-X positive cells and showed a distinct pattern of urinary excretion of substances yielding absorbency at 280 nM. Their mother and sister also had a high count of fragile-X positive cells.
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PMID:Identical triplets with infantile autism and the fragile-X syndrome. 668 62

Autism is a behaviourally defined disorder, initially described by Kanner in 1943. By definition, symptoms are manifested by 36 months of age and are characterized by delayed and disordered language, impaired social interaction, abnormal responses to sensory stimuli, events and objects, poor eye contact, an insistence on sameness, an unusual capacity for rote memory, repetitive and stereotypic behaviour and a normal physical appearance. Relatively few neuropathological studies have been performed on the brains of autistic subjects. Of those reported, abnormalities have been described in the cerebral cortex, the brainstem, the limbic system and the cerebellum. Although those with the disorder present with a specific set of core characteristics, each individual patient is somewhat different from another. Thus, it should not be surprising that the brains of these subjects should show a wide range of abnormalities. However, it is important to delineate the anatomic features, which are common to all cases, regardless of age, sex and IQ, in order to begin to understand the central neurobiological profile of this disorder. The results of our systematic studies indicate that the anatomic features that are consistently abnormal in all cases include reduced numbers of Purkinje cells in the cerebellum, and small tightly packed neurons in the entorhinal cortex and in the medially placed nuclei of the amygdala. It is known that the limbic system is important for learning and memory, and that the amygdala plays a role in emotion and behaviour. Research in the cerebellum indicates that this structure is important as a modulator of a variety of brain functions and impacts on language processing, anticipatory and motor planning, mental imagery and timed sequencing. Defining the differences and similarities in brain anatomy in autism and correlating these observations with detailed clinical descriptions of the patient may allow us greater insight into the underlying neurobiology of this disorder.
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PMID:The neuropathology of the autism spectrum disorders: what have we learned? 1452 Nov 90

Mouse lines with behavioral phenotypes relevant to symptoms in neurodevelopmental disorders may provide models to test hypotheses about disease etiology and to evaluate potential treatments. The present studies were designed to confirm and expand earlier work on the intriguing behavioral profile of the C58/J inbred strain, including low social approach and aberrant repetitive movements. Additional tests were selected to reflect aspects of autism, a severe neurodevelopmental disorder characterized by emergence of symptoms early in life, higher prevalence in males, social deficits and abnormal repetitive behavior. Mice from the C57BL/6J inbred strain, which has a similar genetic lineage and physical appearance to C58/J, served as a comparison group. Our results revealed that C58/J mice display elevated activity levels by postnatal day 6, which persist into adulthood. Despite normal olfactory ability, young adult male C58/J mice showed deficits in social approach in the three-chambered choice assay and failed to demonstrate social transmission of food preference. In contrast, female C58/J mice performed similarly to female C57BL/6J mice in both social tests. C58/J mice of both sexes demonstrated abnormal repetitive behaviors, displaying excessive jumping and back flipping in both social and non-social situations. These stereotypies were clearly evident in C58/J pups by postnatal days 20-21, and were also observed in C58/J dams during a test for maternal behavior. Overall, the strain profile for C58/J, including spontaneously developing motor stereotypies emerging early in the developmental trajectory, and social deficits primarily in males, models multiple components of the autism phenotype.
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PMID:Social deficits, stereotypy and early emergence of repetitive behavior in the C58/J inbred mouse strain. 1994 8

The term "dyspraxia" was coined by Julian de Ajuriaguerra and Mira Stambak in 1964. This clinical term was treated very differently according to which explanatory model was adopted. Nowadays, it is used to refer to developmental coordination disorder in view of its neuro-developmental origin. In any case, the actual clinical situations vary and are often complex. In our opinion, it is first necessary to examine the differential diagnosis: apraxia in children caused by lesions, dysgraphia, simply delayed motor development, non-verbal learning disability syndrome, hemispheric specialisation deficits, pervasive developmental disorders (autisms, Asperger syndrome, atypical autism and other pervasive developmental disorders), mixed specific developmental disorders, multiple developmental disorder, and children with high potential. Next we focus on co-morbidity. Firstly, we look at psychopathological disorders associated with dyspraxia: autism and pervasive developmental disorders, dyscalculia/math disability, dyslexia/reading difficulties, dysphasia accompanied by verbal dyspraxia, intelligence deficiency, anxiety disorders, and attention-deficit hyperactivity disorder (ADHD). Secondly, we examine psychopathological disorders associated with dyspraxia. Children with developmental coordination disorder are less inclined to participate in collective games. As a result, there is a greater risk of them becoming lonely and isolated. They have higher child behaviour checklist (CBCL) scores in the somatic problems scale as well as for anxiety, depression and social withdrawal. They have low self-perception in sports as well as at school, which is related to their physical appearance and their self-esteem, attention deficit and externalized behaviour. These children are often at risk of academic failure and they suffer from oppositional defiant disorder and functional disorders. And finally, we believe that it is important to touch on the impact of these disorders on the family.
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PMID:[Psychopathology in children with dyspraxia]. 2061 74

We wanted to develop and validate an extension of the Autism Spectrum Screening Questionnaire (ASSQ)-the ASSQ Revised Extended Version (ASSQ-REV)--for better capturing the female phenotype of autism spectrum disorders (ASD). Clinic girls and Clinic boys, most of whom with ASD and/or attention-deficit/hyperactivity disorder (ADHD), and Community girls without a clinical diagnosis of any kind of neuropsychiatric disorder were compared on the results of the parent-rated ASSQ and on a new set of items (ASSQ-GIRL). The ASSQ-REV discriminated well between cases and non-cases. Certain single ASSQ-GIRL items were much more typical of girls than of boys with ASD. The most striking of these were "avoids demands", "very determined", "careless with physical appearance and dress" and "interacts mostly with younger children". The issue of whether or not there is a gender-specific ASD for phenotype is discussed.
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PMID:The Autism Spectrum Screening Questionnaire (ASSQ)-Revised Extended Version (ASSQ-REV): an instrument for better capturing the autism phenotype in girls? A preliminary study involving 191 clinical cases and community controls. 2166 5

Body dysmorphic disorder is a challenging disorder that manifests as erroneously perceived flaws in one's physical appearance and repetitive behaviors in response to appearance concerns. This disorder is also frequently comorbid with other psychiatric disorders, including major depressive disorder and autism spectrum disorder. It is currently understood to arise from a combination of biological, psychological, and environmental factors. Treatment of body dysmorphic disorder typically consists of a combination of pharmacotherapy and cognitive behavioral therapy. However, not all patients respond to treatment, and BDD symptoms remain even in those who do respond. This review outlines current pharmacological and neuromodulation treatments for body dysmorphic disorder and suggests directions for future studies of novel treatments such as augmentation with atypical antipsychotics and the use of intranasal oxytocin in cases of body dysmorphic disorder that show residual symptomatology even with tailored monotherapy. There is emerging evidence suggesting that non-invasive neurostimulatory techniques, such as repetitive transcranial magnetic stimulation, may be of value in treatment-resistant cases.
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PMID:Pharmacological Treatment of Body Dysmorphic Disorder. 2970 Nov 57

In Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), Gender dysphoria (GD) is defined as a marked incongruence between one's experienced/expressed gender and assigned gender. Clinical pictures of GD in children show marked diversity. Because of their limited ability to express themselves verbally, children with GD might not be able to describe their discomfort or distress about this incongruence. In contrast to GD in adulthood, GD in children could be alleviated in the natural course. Thus, the clinical diagnosis of GD in children should be made carefully. Distortion of gender identity is equal to prominent confusion of identity, and has a huge psychological burden on children with GD. In addition to the distress due to dysphoria about gender, children with GD could suffer from bullying at school, loneliness among school peers or even in their family, and feelings of disgust about their physical appearance that could cause decreased self-esteem and a sense of worthlessness. In 2015, the Ministry of Education, Culture, Sports, Science and Technology (MEXT) in Japan encouraged all school teachers to provide appropriate support at school to sexual minor- ity students, including students with GD. Furthermore, MEXT published a manual for school teachers to promote necessary interventions for such students at school. There are several papers reporting child cases of GD and comorbid psychiatric disorders. Among them, autism spectrum disorder (ASD) is one of the common comorbidities. Reflecting these conditions, recent review articles discuss possible associations between GD and ASD. In this paper, based on the first author's clinical experience, we describe the clinical symp- toms and diagnosis of GD in children, the relationship between GD and ASD, gender-related manifestations observed in ASD, and practical support for children with GD entering primary school.
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PMID:[Gender Dysphoria in Children in Clinical Practice of Child and Adolescent Psychiatry]. 3062 65