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- Åkefeldt, Arne, et al.
(författare)
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Voice, speech and language characteristics of children with Prader-Willi syndrome
- 1997
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Ingår i: Journal of Intellectual Disability and Research. - : Wiley. - 0964-2633 .- 1365-2788. ; 41:4, s. 302-311
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Tidskriftsartikel (refereegranskat)abstract
- Eleven individuals with Prader-Willi syndrome (PWS), aged between 4 and 25 years, were compared with II non-PWS children of the same sex, age, body mass index and IQ level. Voice, speech and language skills were generally impaired in subjects with PWS. Oral motor function, pitch level and resonance were specifically disordered and clearly differentiated the two groups from each other. Certain biological perinatal factors separated subjects with PWS from other obese children and adolescents, but did not differentiate within the group with PWS and could not account for the speech/language problems. Underlying cerebral dysfunction, combined with a characteristic anatomy of the mouth and larynx in PWS, contributes to altered voice, speech and language function.
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| 2. |
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| 3. |
- Åkefeldt, Arne, et al.
(författare)
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Behavior and personality characteristics of children and young adults with Prader-Willi syndrome: a controlled study
- 1999
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Ingår i: Journal of the American Academy of Child and Adolescent Psychiatry. - : Elsevier BV. - 0890-8567. ; 38:6, s. 761-769
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Tidskriftsartikel (refereegranskat)abstract
- Objective To analyze (1) which behavior and personality characteristics in Prader-Willi syndrome (PWS) are primarily linked to the syndrome and not to mental retardation or being overweight, (2) how early in life such traits appear, and (3) whether current therapies affect behavior. Method Parents of a group of 44 individuals with PWS and of a comparison group were interviewed and completed questionnaires about their children's behavior and personality. Results Individuals with PWS had more behavior problems than those in the comparison group. Some behaviors were specific to PWS. Younger PWS cases had fewer behavior problems than older PWS cases. Treated individuals had approximately the same degree of behavior problems as those untreated, even though a few symptoms occurred at lower rates. Conclusions PWS is associated with behavior correlates that are not related to weight or IQ. In the first few years of life, children with PWS do not demonstrate the characteristic profile of preoccupation with food, ritualism, irritability, temper tantrums, and skin-picking which is typical of older individuals with PWS. Current therapies (including treatment with growth hormone) do not seem to radically affect the behavioral expression of the disorder, even though some problems tended to abate with treatmen
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| 4. |
- Åkefeldt, Arne, et al.
(författare)
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Cerebrospinal fluid monoamines in Prader-Willi syndrome.
- 1998
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Ingår i: Biological Psychiatry. - 0006-3223. ; 44:12, s. 1321-1328
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Tidskriftsartikel (refereegranskat)abstract
- Background: The behavioral phenotype of Prader–Willi syndrome (PWS) suggests hypothalamic dysfunction and altered neurotransmitter regulation. The purpose of this study was to examine whether there was any difference in the concentrations of monoamine metabolites in the cerebrospinal fluid (CSF) in PWS and non-PWS comparison cases. Methods: The concentration of monoamine metabolites in CSF was determined in 13 children and adolescents with PWS diagnosed on clinical and genetic criteria. The concentrations were compared with those from 56 comparison cases in healthy and other contrast groups. Results: The concentrations of dopamine and particularly serotonin metabolites were increased in the PWS group. The differences were most prominent for 5-hydroxyindoleacetic acid. The increased concentrations were found in all PWS cases independently of age, body mass index, and level of mental retardation. Conclusions: The findings implicate dysfunction of the serotonergic system and possibly also of the dopamine system in PWS individuals, and might help inform future psychopharmacologic studies.
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