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

Theory-of-mind concepts in children with deafness, autism, and normal development (N = 154) were examined in three experiments using a set of standard inferential false-belief tasks and matched sets of tasks involving false drawings. Results of all three experiments replicated previously published findings by showing that primary school children with deafness or autism, aged 6 to 13 years, scored significantly lower than normal-developing 4-year-old preschoolers on standard misleading-container and unseen-change tests of false-belief understanding. Furthermore, deaf and autistic children generally scored higher on drawing-based tests than on corresponding standard tests and, on the most challenging of the false-drawing tests in Experiment 2, they significantly outperformed the normal-developing preschoolers by clearly understanding their own false intentions and another person's false beliefs about an actively misleading drawing. In Experiment 3, preschoolers outperformed older deaf and autistic children on standard tasks, but did less well on a task that required the drawing of a false belief. Methodological factors could not fully explain the findings, but early social and conversational experiences in the family were deemed likely contributors.
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PMID:Drawing insight from pictures: the development of concepts of false drawing and false belief in children with deafness, normal hearing, and autism. 1236 11

Autistic disorder, a pervasive developmental disorder resulting in social, language, or sensorimotor deficits, occurs in approximately seven of 10,000 persons. Early detection and intervention significantly improve outcome, with about one third of autistic persons achieving some degree of independent living. Indications for developmental evaluation include no babbling, pointing, or use of other gestures by 12 months of age, no single words by 16 months of age, no two-word spontaneous phrases by 24 months of age, and loss of previously learned language or social skills at any age. The differential diagnosis includes other psychiatric and pervasive developmental disorders, deafness, and profound hearing loss. Autism is frequently associated with fragile X syndrome and tuberous sclerosis, and may be caused by lead poisoning and metabolic disorders. Common comorbidities include mental retardation, seizure disorder, and psychiatric disorders such as depression and anxiety. Behavior modification programs are helpful and are usually administered by multidisciplinary teams, targeted medication is used to address behavior concerns. Many different treatment approaches can be used, some of which are unproven and have little scientific support. Parents may be encouraged to investigate national resources and local support networks.
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PMID:Autism: a medical primer. 1244 66

Measles virus is the most infectious transmissible agent causing human disease and has probably been responsible for the deaths of more children than any other single cause. In addition, infection with the natural virus causes many severe complications, including encephalitis, deafness and pneumonia. The introduction of live attenuated vaccines, either singly or as the measles-mumps-rubella combined vaccine, has dramatically reduced the occurrence of disease and in countries where vaccine uptake is high, indigenous disease has been virtually eliminated. Even though the current vaccines are very efficient, they do have their limitations. Children are most at risk during the first year of life and for most of this period, maternal antibodies prevent effective immunization. In addition, the current measles vaccines are relatively heat labile which causes difficulty in tropical areas. In recent years, vaccination rates in some industrial countries have been adversely affected by fears that measles vaccines are linked to inflammatory bowel diseases and autism. Although there is no conclusive evidence to support these fears, they still remain and probably contribute to poor vaccine uptake in some regions and sections of society. Although severe complications from vaccination are extremely rare, mild local reactions are more common. Consequently, in countries where measles is declining or has been eliminated, the fear of side effects of vaccination may encourage the development of vaccines that do not rely on virus replication to take effect.
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PMID:Will the current measles vaccines ever eradicate measles? 1290 74

The majority of normal children will have developed some speech by the age of two years. Significant delay in speech development may be the result of (1) deafness, (2) mental retardation, (3) faulty innervation of the speech organs, (4) aphasia, (5) autism, (6) a family trait, (7) hospitalism, (8) parental neurosis, or (9) some combination of these factors. Each nonspeaking child needs an individually planned study for precise diagnosis and recommendation for treatment.
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PMID:The child who does not talk. 1375 Jan 38

Autism spectrum disorders are particularly difficult to diagnose in the presence of early profound deafness because of communication related issues. Two parts of the Autism Screening Instrument were administered to 13 deaf individuals with autism and two comparison groups: hearing autistic and deaf learning disabled. A parental questionnaire was also used. No differences in autistic symptomatology were found between the deaf autistic and the hearing autistic group. However, the deaf autistic group was diagnosed later than the hearing autistic group. It is concluded that autism can be diagnosed in the deaf; that it resembles autism in the hearing; and that it is not a consequence of deafness per se. Learning disabled deaf individuals who are not autistic do not resemble people with autism in behavioural terms. The findings have implications for remediation, education, and the emergence and management of challenging behaviours.
Autism 2003 Sep
PMID:Co-occurrence of autism and deafness: diagnostic considerations. 1451 58

Chromosome 10p terminal deletions have been associated with a DiGeorge like phenotype. Haploinsufficiency of the region 10p14-pter, results in hypoparathyroidism, sensorineural deafness, renal anomaly, that is the triad that features the HDR syndrome. Van Esch (2000) identified in a HDR patient, within a 200 kb critical region, the GATA3 gene, a transcription factor involved in the embryonic development of the parathyroids, auditory system and kidneys. We describe a new male patient, 33-year-old, with 10p partial deletion affected by hypocalcemia, basal ganglia calcifications and a severe autistic syndrome associated with mental retardation. Neurologically he presented severe impairment of language, hypotonia, clumsiness and a postural dystonic attitude. A peripheral involvement of auditory pathways was documented by auditory evoked potentials alterations. CT scan documented basal ganglia calcifications. Hyperintensity of the lentiform nuclei was evident at the MRI examination. Renal ultrasound scan was normal. Haploinsufficiency for GATA3 gene was documented with FISH analysis using cosmid clone 1.2. Phenotypic spectrum observed in del (10p) is more severe than the classical DGS spectrum. GATA3 has been found to regulate the development of serotoninergic neurons. A serotoninergic dysfunction may be linked with autism in this patient.
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PMID:Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. 1533 74

CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA.
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PMID:CHARGE association in Sweden: malformations and functional deficits. 1563 80

CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting, tracheo-esophageal fistula, renal anomalies, thymic/parathyroid hypoplasia, spine anomalies, short broad neck with sloping shoulders, and characteristic facial features. We conducted behavioral and personality assessments in 14 boys with HHS syndrome aged 6-21 years, and compared their characteristics with similar data from 20 age-matched boys with Down syndrome (DS), 17 boys with Prader-Willi syndrome (PWS), and 16 boys with Williams syndrome (WS). We used the Reiss Profile of Fundamental Goals and Motivation Sensitivities, the Achenbach Child Behavior Checklist (CBCL), and the Aberrant Behavior Checklist (ABC). All 14 boys with HHS were legally deaf, and 10 of the 14 were also legally blind. In comparison these other syndromes, boys with HHS had behavior that resembled autistic spectrum disorder. They were socially withdrawn, lacked interest in social contact, and manifested reduced seeking of attention from others, with hyperactivity and a need to maintain order. Though the boys with HHS showed decreased social interaction, they were not as socially impaired as in classic autism. Their language was delayed due to dual sensory impairment, cranial nerve deficits, and chronic medical problems, but their language style was not abnormal (no echolalia or jargon, no scripted phrases, and no pronoun reversal). Boys with HSS appeared frustrated, but they were not aggressive, or at risk for delinquency, manifesting few stereotypic behaviors or unusual preoccupations. They did not have a restricted repertoire of activities and interests. Their behavioral features appeared to be due to dual sensory impairment affecting hearing and vision, rather than to primary autistic spectrum disorder, but successful remediation requires similar educational interventions, which are discussed herein.
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PMID:Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome. 1563 8

Prior research demonstrates that understanding theory of mind (ToM) is seriously and similarly delayed in late-signing deaf children and children with autism. Are these children simply delayed in timing relative to typical children, or do they demonstrate different patterns of development? The current research addressed this question by testing 145 children (ranging from 3 to 13 years) with deafness, autism, or typical development using a ToM scale. Results indicate that all groups followed the same sequence of steps, up to a point, but that children with autism showed an importantly different sequence of understandings (in the later steps of the progression) relative to all other groups.
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PMID:Steps in theory-of-mind development for children with deafness or autism. 1578 96

The population ofchildren seen in the Georges Vacola day hospital, opened 20 years, suffer from serious personality disorders and from, hearing deficit. Speech and language disorders were present in every case. However. autism seems to be less prominent. The dtlfficulties in communicate are associated with problems of memory comprehension and hearing deficit. Many of the autistic children have associated deafness. The importance of central and functional deafness is highlighted. Deficits of mechanisms indispensable to the recognition, discrimination, structuralization, memorization of auditory stimuli are discussed. Another study including 500 autistic children showed that 15% of these children aged 11 to 13 years presented with auditory disorders.
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PMID:[Peripheral, central and psychic deafness: diagnosis difficulties in case of autism child]. 1585 28


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