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- Ekström, Anne-Berit, 1960, et al.
(författare)
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Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms
- 2008
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Ingår i: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. - : Wiley. - 1552-4841 .- 1552-485X. ; 147B:6, s. 918-926
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Tidskriftsartikel (refereegranskat)abstract
- Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder, caused by an expansion of a CTG triplet repeat in the DMPK gene. The aims of the present study were to classify a cohort of children with DM1, to describe their neuropsychiatric problems and cognitive level, to estimate the size of the CTG expansion, and to correlate the molecular findings with the neuropsychiatric problems. Fifty-seven children and adolescents (26 females; 31 males) with DM1 (CTG repeats > 40) were included in the study. The following instruments were used: Autism Diagnostic Interview-Revised (ADI-R), 5-15, Griffiths Mental Development Scales, and the Wechsler Scales. Based on age at onset and presenting symptoms, the children were divided into four DM1 groups; severe congenital (n = 19), mild congenital (n = 18), childhood (n = 18), and classical DM1 (n = 2). Forty-nine percent had an autism spectrum disorder (ASD) and autistic disorder was the most common diagnosis present in 35% of the subjects. Eighty-six percent of the individuals with DM1 had mental retardation (MR), most of them moderate or severe MR. ASD was significantly correlated with the DM1 form; the more severe the form of DM1, the higher the frequency of ASD. The frequency of ASD increased with increasing CTG repeat expansions. ASD and/or other neuropsychiatric disorders such as attention deficit hyperactivity disorder, and Tourette's disorder were found in 54% of the total DM1. group. In conclusion, awareness of ASD comorbidity in DM1. is essential. Further studies are warranted to elucidate the molecular etiology causing neurodevelopmental symptoms such as ASD and MR in DM1. (c) 2008 Wiley-Liss, Inc.
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| 2. |
- Ekström, Anne-Berit, 1960, et al.
(författare)
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Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms.
- 2009
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Ingår i: Dev Med Child Neurol. - : Wiley. - 1469-8749 .- 0012-1622. ; 51:12, s. 982-90
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Tidskriftsartikel (refereegranskat)abstract
- Aims To investigate cognitive abilities and adaptive skills in children and adolescents with myotonic dystrophy type 1 (DM1) and correlate the findings to the cytosine-thymine-guanine (CTG) repeat expansion size. Method Cognitive level was assessed in 55 children and adolescents with DM1 (31 males, 24 females; mean age 12y 1mo, SD 5y 1mo; range 2y 7mo–21y 5mo) divided into the following categories: severe congenital DM1 (n=19), mild congenital DM1 (n=18), and childhood DM1 (n=18). The Griffiths Mental Developmental Scale, the Wechsler Scales, and the Vineland Adaptive Behavior Scales (VABS) for adaptive skills were used for this purpose. Results Learning disability was found in 95% of the severe congenital group, 83% of the mild congenital group, and 89% of the childhood DM1 group. The more severe the form of DM1, the lower the full-scale IQ (FSIQ; rs=0.28, p=0.044). The individuals with severe congenital and childhood DM1 had a significantly higher verbal IQ than performance IQ (severe congenital: mean difference 5.7, SD 5.7, p=0.008; childhood DM1: mean difference 9.8, SD 18.0, p=0.038). CTG repeat expansion correlated negatively with FSIQ (rs=−0.63, p<0.006). Almost all participants showed poor results on the VABS. There was a positive relationship between cognitive level and adaptive skills in the mild congenital (rs=0.95, p<0.01) and childhood DM1 groups (rs=0.92, p<0.01). Interpretation Children and adolescents with DM1 exhibit significant cognitive and adaptive problems.
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| 3. |
- Ekström, Anne-Berit, 1960
(författare)
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Congenital and Childhood Myotonic Dystrophy type 1 - the impact on central nervous system, visual and motor function
- 2009
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Background and aims: Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder, caused by an expanded CTG repeat on chromosome 19. The disorder can present both in children and adults. The overall purpose of this study was to gain further insight on neuropsychiatric and neurocognitive aspects, vision and motor function in individuals with congenital and childhood DM1. Further to correlate the size of the CTG repeat expansion, inheritance and the onset form with the clinical findings. Methods: Fifty-nine children and adolescents with DM1 were included. Based on age at onset and presenting symptoms, the individuals were divided into four groups; severe and mild congenital, childhood and classical DM1. In study I and IV, the results were compared with healthy age and gender-matched controls. Measurement of muscle strength, motor function and contractures was performed. According to the DSM-IV criteria, neuropsychiatric diagnoses were assigned on the basis of all available information. The intellectual level was assessed using the Griffiths Mental Developmental Scale or the Wechsler Scales, and adaptive skills using the Vineland Adaptive Behaviour Scales. The ophthalmological examination included best corrected visual acuity, refraction, slit-lamp biomicroscopy, indirect ophthalmoscopy and flash visual evoked potentials (VEP). Results: Motor function and muscle strength was significantly reduced in children with DM1 compared with healthy controls, but there was great variation regarding the degree of muscle weakness. Forty-nine percent had an autism spectrum condition (ASC) and autistic disorder was the most common diagnosis, present in 35% of the affected individuals. A large majority of the participants had learning disability, usually in the moderate to severe range. Almost all participants showed poor adaptive skills. The ophthalmological study shows a higher prevalence of low visual acuity and refractive errors compared with the controls. No true cataract was found. Subtle non-specific fundus changes were present in addition to VEP pathology. The frequency of ASC increased with increasing CTG repeat expansions. Motor function, intellectual level, visual acuity and adaptive skills presented lower values in individuals with larger CTG repeat expansion size. Maternal inheritance had a negative impact on intellectual and adaptive functioning. The more severe the form of DM1, the more reduced the motor function and visual acuity, and the higher the frequency of ASC and learning disability. Conclusions: DM1 in childhood shows great variability regarding symptoms and age at onset. At the individual level, the size of the CTG repeat expansion cannot predict the DM1 form. No clear genotype-phenotype correlations were found, although the largest expansions were present in the severe congenital group. In everyday life, it appears that individuals with DM1 primarily suffer from their CNS-related symptoms, such as cognitive deficits, neuropsychiatric problems and visual dysfunctions, rather than their neuromuscular symptoms.
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| 4. |
- Sjögreen, Lotta, 1954, et al.
(författare)
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Orofacial dysfunction in children and adolescents with myotonic dystrophy.
- 2007
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Ingår i: Developmental medicine and child neurology. - 0012-1622. ; 49:1, s. 18-22
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Tidskriftsartikel (refereegranskat)abstract
- Myotonic dystrophy (DM) is a neuromuscular disorder caused by an expansion of a CTG repeat sequence on chromosome 19q13. The aim of the present study was to describe the characteristics and prevalence of oral motor dysfunction in a cohort of children and adolescents with DM and to correlate different aspects of oral motor function with the type of DM and sex. Fifty-six individuals with DM (30 males, 26 females; median age 13y 2mo; range 2y 6mo-21y 5mo) were compared with healthy controls. They were divided into four subgroups: severe congenital DM (n=18); mild congenital DM (n=18); childhood DM (n=18); and classical DM (n=2). A speech-language pathologist assessed different variables of oral motor function, intelligibility, and lip force. The families used a questionnaire to report on eating difficulties and drooling. All individuals with DM had impaired facial expression. Intelligibility was moderately or severely reduced in 30 patients (60%), excluding six patients without speech. Most had a moderate or severe impairment of lip motility (76.0%), tongue motility (52.2%), and lip force (69.2%), causing deviant production of bilabial and dental consonants. The families reported problems with eating (51.9%) and drooling (37.0%). Oral motor dysfunction was most prominent in congenital DM, and males were more affected than females.
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