45 research outputs found

    Natural history of alpha-thalassemia X-linked intellectual disability syndrome : A case report of a 45-year-old man

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    We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. The patient achieved present adaptive and motor skills in his teenage years. He is able to move on the floor in a sitting position. He seems happy and has not shown any behavioral or psychiatric symptoms. New signs not described in the literature before are accelerated growth after puberty and atypical sleeping position with upper body resting on legs.Non peer reviewe

    Down-aikuinen lääkärin vastaanotolla

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    Vertaisarvioitu. Näin hoidan.Viime vuosikymmenien aikana Down-henkilöiden keskimääräinen elinikä on pidentynyt 60 vuoteen, ja samanaikaisesti laitoskeskeinen kehitysvammaisten erityishuolto on suurelta osin purettu. Down-aikuiset asuvat kotikunnissaan ja asioivat perusterveydenhuollossa. Vaikka Downin oireyhtymä on yleisin kehitysvammaoireyhtymä, aikuisikäisten liitännäissairauksista on edelleen vähän tieteellisestä näyttöä. Varhainen muistisairaus, lihavuus, kilpirauhasen vajaatoiminta, silmätaudit, uniapnea ja epilepsia ovat yleisimmät terveyspulmat. Mahdollisesti alidiagnosoituja ongelmia ovat keliakia, osteoporoosi, instabiili atlantoaksiaalinivel sekä moyamoya-tauti. Eri kehitysvammaoireyhtymiin liittyy niille tyypillisiä terveyspulmia, joiden tunnistaminen on tärkeää henkilön hyvinvoinnin kannalta. On ihanteellista, jos kullekin Down-henkilölle voidaan nimetä oma terveyskeskuslääkärin ja terveyden- tai sairaanhoitajan pari, joka tapaa potilaan säännöllisesti vuoden tai kahden välein ja huomioi työssään oireyhtymään liittyvät terveysongelmat

    Screening of dementia indicating signs in adults with intellectual disabilities

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    Background In intellectual disability, the cognitive delay is observed during developmental age, whereas in dementia, cognitive decline occurs during post-developmental period. So far, the risk of dementia in people with intellectual disability, excluding those with Down syndrome, is poorly known. Method We screened dementia signs in a study group of 230 adults (34-80 years of age) with the help of the British Present Psychiatric State-Learning Disabilities assessment. Results Of the study members, 42% showed two or more signs. The overall frequency of symptoms did not differ between age groups. The number of individuals with a genetic syndrome or disease manifesting with a shortened lifespan was greater in the younger age groups when compared to the older age groups. Conclusion People with an intellectual disability represent numerous rare syndromes with comorbidities. It seems that dementia signs may affect any age groups of adults with intellectual disability.Peer reviewe

    Kehitysvamma on elinikäinen

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    English summaryPeer reviewe

    Aspartylglycosaminuria: a review

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    Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years.The disease is caused by the deficient activity of the lysosomal enzyme glycosylasparaginase (aspartylglucosaminidase, AGA), which leads to a disorder in the degradation of glycoasparagines - aspartylglucosamine or other glycoconjugates with an aspartylglucosamine moiety at their reducing end-and accumulation of these undegraded glycoasparagines in tissues and body fluids. A single nucleotide change in the AGA gene resulting in a cysteine to serine substitution (C163S) in the AGA enzyme protein causes the deficiency of the glycosylasparaginase activity in the Finnish population.Homozygosity for the single nucleotide change causing the C163S mutation is responsible for 98% of the AGU cases in Finland simplifying the carrier detection and prenatal diagnosis of the disorder in the Finnish population. A mouse strain, which completely lacks the Aga activity has been generated through targeted disruption of the Aga gene in embryonic stem cells. These Aga-deficient mice share most of the clinical, histopathologic and biochemical characteristics of human AGU disease. Treatment of AGU mice with recombinant AGA resulted in rapid correction of the pathophysiologic characteristics of AGU in non-neuronal tissues of the animals. The accumulation of aspartylglucosamine was reduced by up to 40% in the brain tissue of the animals depending on the age of the animals and the therapeutic protocol. Enzyme replacement trials on human AGU patients have not been reported so far. Allogenic stem cell transplantation has not proved effective in curing AGU

    Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation

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    Background: Phelan-McDermid syndrome (PMD) is usually not only caused by 22q13.3 deletion but also pathogenic variants (mutations) of SHANK3 gene. PMD is characterized by global intellectual disability, severely delayed or absent speech, and features of autism spectrum disorder and susceptibility to psychotic behavior. Here, we describe a neurocognitive follow-up and genetic etiology for two siblings with PMD. Method: Comparative genomic hybridization (CGH) array test was normal and no 22q13.3 deletion was observed. For this reason, whole exome sequencing (WES) analyzed the siblings' and the parents' DNA sample. Results: The results of the siblings strongly suggest that the SHANK3 gene variant c.2313+1G>A is pathogenic and PMD can be inherited from a mosaic father for this gene variant. Both siblings learned new skills until puberty but experienced a neuropsychiatric disaster after the age of 14 years experienced neurocognitive decline and it was sharp for one of the siblings. Conclusion: The long-term observations are sparse in PMD and SHANK3 mutations. This is the neurocognitive follow-up from childhood to middle ages, where a sharp neurocognitive decline was observed. We conclude that progressive neuropsychiatric symptoms in adolescence are a universal clinical clue for PMD diagnosis and an underlying SHANK3 splicing site mutation.Peer reviewe

    Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man

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    We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. The patient achieved present adaptive and motor skills in his teenage years. He is able to move on the floor in a sitting position. He seems happy and has not shown any behavioral or psychiatric symptoms. New signs not described in the literature before are accelerated growth after puberty and atypical sleeping position with upper body resting on legs

    Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation

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    Background: Phelan-McDermid syndrome (PMD) is usually not only caused by 22q13.3 deletion but also pathogenic variants (mutations) of SHANK3 gene. PMD is characterized by global intellectual disability, severely delayed or absent speech, and features of autism spectrum disorder and susceptibility to psychotic behavior. Here, we describe a neurocognitive follow-up and genetic etiology for two siblings with PMD. Method: Comparative genomic hybridization (CGH) array test was normal and no 22q13.3 deletion was observed. For this reason, whole exome sequencing (WES) analyzed the siblings' and the parents' DNA sample. Results: The results of the siblings strongly suggest that the SHANK3 gene variant c.2313+1G>A is pathogenic and PMD can be inherited from a mosaic father for this gene variant. Both siblings learned new skills until puberty but experienced a neuropsychiatric disaster after the age of 14 years experienced neurocognitive decline and it was sharp for one of the siblings. Conclusion: The long-term observations are sparse in PMD and SHANK3 mutations. This is the neurocognitive follow-up from childhood to middle ages, where a sharp neurocognitive decline was observed. We conclude that progressive neuropsychiatric symptoms in adolescence are a universal clinical clue for PMD diagnosis and an underlying SHANK3 splicing site mutation.Peer reviewe

    Pyörätuolia käyttävän nuoren elämäntilanne ja avuntarve

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