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Human developmental disorders and the Sonic hedgehog pathway.

Sonic hedgehog (Shh) is a morphogen that is crucial for normal development of a variety of organ systems, including the brain and spinal cord, the eye, craniofacial structures, and the limbs. Mutations in the human SHH gene and genes that encode its downstream intracellular signaling pathway cause several clinical disorders. These include holoprosencephaly (HPE, the most common anomaly of the developing forebrain), nevoid basal cell carcinoma syndrome, sporadic tumors, including basal cell carcinomas, and three distinct congenital disorders: Greig syndrome Pallister-Hall syndrome, and isolated postaxial polydactyly. These conditions caused by abnormalities in the SHH pathway demonstrate the crucial role of SHH in complex developmental processes, and molecular analyses of these disorders provide insight into the normal function of the SHH pathway in human development.

Animals↗

[Treatment of developmental disorders--principles, methods and indication].

In a review article, the basic principles of special education and therapies for children with developmental disabilities are discussed. Physiotherapy, occupational therapy, speech therapy and psychomotor therapy are the most widely used treatment methods. In addition there are many preschool programs of special schools. The essence of all these activities (infant stimulation, parent education, and home based services) should have the aim to challenge active and self-guided movements or plays which have the highest likelihood to effect an improvement and success of early intervention. Perhaps one of the most important goals of early intervention programmes is to stimulate comprehension the parents and the families and capabilities of their children.

Child↗

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

This study was designed to explore the behavioral phenotype of autism in a group of young children with fragile X syndrome (FXS). Twenty-four children with FXS, ages 21 to 48 months, were compared with two well-matched groups: 27 children with autism (AD) and 23 children with other developmental delays (DD), on two standardized autism instruments, as well as on measures of development and adaptive behavior. Two FXS subgroups emerged. One subgroup (n = 16) did not meet study criteria for autism. Their profiles on the autism instruments and the developmental instruments were virtually identical to the other DD group. The other FXS subgroup (n = 8, or 33% of the total FXS group) met study criteria for autism. Their profiles on the autism instruments were virtually identical to the group with autism. The finding of two FXS subgroups raises a hypothesis of additional genetic influences in the FXS autism group, warranting further genetic studies.

Autistic Disorder↗

A complex background in children and adolescents with psychiatric disorders: developmental delay, dyslexia, heredity, slow cognitive processing and adverse social factors in a multifactorial entirety.

A consecutive cohort of 112 children, 42 girls and 70 boys, aged 5-17 years, receiving child psychiatric inpatient care, was investigated regarding the probability of a complex background of concomitant biological and social factors. Most of the subjects showed maladjustment and depressive states, school problems, problems with peers, psychosomatic complaints and anxiety. A very high rate of factors indicating neurodevelopmental dysfunctions was found particularly in boys, who exhibited developmental delay, dyslexia, heredity for dyslexia, and a slow complex reaction time (CRT) - suggesting slow cognitive processing - considered an impairment in itself. Further, many children obtained errors on the CRT task, indicating attention deficit and deterioration during the test, pointing toward exhaustion. The social background displayed frequent problems such as broken homes, care outside the biological home, and disordered and/or abusing parents. The biological and social factors created a complex web, predisposing the child to primary, secondary and/or comorbidity problems, and leading to an interactive process reducing the child's psychosocial capacity and competence. A pattern was developed of an impaired child, living in an inadequate/insufficient family milieu in a modern society, with increasing demands on children.

Adolescent↗

Hypothalamic hamartoma, precocious puberty and gelastic seizures: a special model of "epileptic" developmental disorder.

Based on a review of the literature and a detailed longitudinal single case study of a child with early onset gelastic seizures and hypothalamic hamartoma, the authors review the arguments suggesting that the acquired cognitive and behavioral symptoms seen in the majority of cases of this special epileptic syndrome result from a direct effect of the seizures. The early neurobehavioral profile of the case presented in this paper and that of a previous study is particular and combines features of a pervasive developmental and an attention deficit disorder which are probably closely related to the particular location of the epilepsy and its spread from the hypothalamus.

Behavior↗