Bibliography. Current world literature. Mental retardation and developmental disorders.
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BACKGROUND: The abnormal gaze behavior of autistic children toward human faces, as observed in daily-life situations, are investigated in two fixation time studies. It has been argued that faces are a special kind of stimuli for normal individuals and that this might not be the case for autistic children. METHODS: A group of high-functioning autistic children (including a group of sub-threshold PDD-NOS children) was compared with a group of normal children, with respect to their fixation behavior for photographs of human faces. Using an infrared eye-tracking device, fixation times for the whole face and for the facial elements of faces were compared between the two groups. The first study dealt with faces having an emotional expression. The second study dealt with neutral faces presented either upright or upside-down. RESULTS: Results of the two studies showed that autistic children have the same fixation behavior as normal children for upright faces, with or without an emotional expression. Furthermore, results of the second study showed that normal children spent less time looking at upside-down faces, but that the fixation times of autistic children were not influenced by the orientation of the faces. CONCLUSIONS: These results plead against the notion that the abnormal gaze behavior in everyday life is due to the presence of facial stimuli per se. Furthermore, the absence of a face orientation effect in autistic children might be a reflection of a lack of holistic processing of human faces in autism.
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The social behaviour of low-functioning children with a Pervasive Development Disorder (PDD), high-functioning children with a PDD, children with a Language Disorder (LD) and normally developing children (ND) was investigated in a playroom session while they were interacting with one of their parents. High-functioning children with a PDD were found to differ from the other groups in social responsivity. Low-functioning children with a PDD differed from high-functioning children with a PDD in the total number of social bids, type of social bids, number of looks at parent and social responsivity. When parents structured the behaviour of their children, this resulted in an increase in number of social bids and looks in the low-functioning children with PDD.
A dermatoglyphic and palmar crease analysis was carried out in 100 children aged six months to five years with psychomotor retardation (excluding Down's syndrome). When compared with 121 of the parents and a random group of 168 school-children, certain unusual features were found to be twice as common in the retarded children, demonstrating that these features may indicate an 'at risk' infant if found during routine examination of the newborn.
The Fgf signalling pathway is highly conserved in evolution and plays crucial roles in development. In the craniofacial region, it is involved in almost all structure development from early patterning to growth regulation. In craniofacial skeletogenesis, the Fgf signal pathway plays important roles in suture and synchondrosis regulation. Mutations of FGF receptors relate to syndromatic and non-syndromatic craniosynostosis. The Fgf10/Fgfr2b signal loop is critical for palatogenesis and submandibular gland formation. Perturbation of the Fgf signal is a possible mechanism of palatal cleft. Fgf10 haploinsufficiency has been identified as the cause of autosomal dominant aplasia of lacrimal and salivary glands. The Fgf signal is also a key regulator of tooth formation: in the absence of Fgfr2b tooth development is arrested at the bud stage. Fgfr4 has recently been identified as the key signal mediator in myogenesis. In this review, these aspects are discussed in detail with a focus on the most recent advances.
Children with autism and the related PDDs may benefit from serotonin reuptake inhibitors such as clomipramine, fluoxetine, fluvoxamine, and sertraline for targeting repetitive thoughts and behaviors, anxiety, and depressed mood. To date, however, there are few controlled studies of these agents in children with PDD, so definitive evidence is lacking. Despite preliminary results in favor of naltrexone, neuroleptic medication appears to be effective for reducing aggression, self-injurious behavior, agitation, and stereotypies. The primary drawback with traditional neuroleptics is risk of short- and long-term side effects. The newer atypical neuroleptics have the potential for benefit with fewer extrapyramidal side effects, but more study is needed to establish their efficacy and safety. Children on neuroleptic medications should be started at the lowest possible dose, with gradual increases until clinical benefit is observed. The likelihood of untoward side effects is increased if the medication dose is increased rapidly. Baseline measurement of target behaviors can be aided by using standardized scales. The presence of abnormal movements should be assessed before initiating treatment and at regular intervals during the course of treatment--including after medication withdrawal. Weight gain is emerging as a recurrent side effect with the atypical neuroleptics. Thus, weight should be monitored, and the family should be advised about a diet baseline. As with all treatments of children with severe behavioral difficulties, pharmacotherapy should be instituted in the context of an integrated treatment plan.
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The method presented is based on the 3-dimensional bioclinical examination of autistic children. The covariations of behavior ratings, electrophysiological (cortical evoked potentials) and biochemical (urinary monoamine metabolites) measurements are analyzed. The systematic application of these markers provides precise information for a more rational application of therapeutics. It could help to better understand the underlying mechanisms of autism.