Ocular motor function in relation to gross motor function in congenital and childhood myotonic dystrophy type 1

Aring, Eva; Ekström, Anne‐Berit; Tulinius, M.; Sjöström, Anders

doi:10.1111/j.1755-3768.2010.01956.x

Cited by 20 publications

(15 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…These results confirm previous hypotheses of authors who suspected visual–spatial dysfunction based on (1) Wechsler Intelligence Scale for Children profile (very low scores on Object Assembly and Block Design 12,41,42 ) and (2) specific reading and spelling impairments in patients with childhood DM1 and no intellectual disability (no phonological deficit, severe impairment in searching for information in a television programme) 13 . These results are also in line with recent studies that reported a high rate (82%) of ocular motor abnormalities (alliterated conjugate eye movements), as well as visual function pathologies (low visual acuity, hyperopia, or astigmatism) in childhood DM1 43,44 . All these abnormalities could affect the development of the visual system and the ability to learn to read.…”

Section: Discussionsupporting

confidence: 91%

“…Therefore, the disorder called sluggish cognitive tempo should be investigated with appropriate instruments in further research, 11 as well as hearing attention, given the abnormalities in visual development. 44 The low rate of somnolence (present in only four patients) contradicts the hypothesis of continuity between somnolence and attention deficit. The rate of excessive daytime sleepiness is lower than the rates observed in adults (nearly 30%) according to Yu et al 45 Our results should be understood in the context of the following study limitations.…”

Section: Discussionmentioning

confidence: 83%

“…Cognitive impairment (inattention, slowness, and fatigability) involved a larger population than those with an ADHD diagnosis because five participants showed visual attention deficit with no clinical diagnosis of ADHD. Therefore, the disorder called sluggish cognitive tempo should be investigated with appropriate instruments in further research, 11 as well as hearing attention, given the abnormalities in visual development 44 . The low rate of somnolence (present in only four patients) contradicts the hypothesis of continuity between somnolence and attention deficit.…”

Section: Discussionmentioning

confidence: 98%

“…13 These results are also in line with recent studies that reported a high rate (82%) of ocular motor abnormalities (alliterated conjugate eye movements), as well as visual function pathologies (low visual acuity, hyperopia, or astigmatism) in childhood DM1. 43,44 All these abnormalities could affect the development of the visual system and the ability to learn to read.…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1

Douniol

Jacquette

Cohen

et al. 2012

Develop Med Child Neuro

View full text Add to dashboard Cite

ABBREVIATIONSASD Autism spectrum disorder CTG Cytosine-thymine-guanine DM1 Myotonic dystrophy type 1 AIM To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1).METHOD Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence, visual attention, and visual-spatial construction abilities.RESULTS Nineteen patients had repeated a school grade. The mean (SD) Full-scale IQ was 73.6 (17.5) and mean Verbal IQ was significantly higher than the mean Performance IQ: 80.2 (19.22) versus 72.95 (15.58), p=0.01. Fifteen patients had one or more diagnoses on the DSM-IV axis 1, including internalizing disorders (phobia, n=7; mood disorder, n=6; other anxiety disorders, n=5) and attention-deficit-hyperactivity disorder, inattentive subtype (n=8). Twelve out of 22 patients had alexithymia (inability to express feelings with words and to recognize and share emotional states). Cognitive testing found severe impairments in visual attention and visual-spatial construction abilities in four out of 18, and 14 out of 24 patients respectively. No diagnosis was correlated with the transmitting parent's sex or with cytosine-thymine-guanine (CTG) repeat numbers. Patients with severe visual-spatial construction disabilities had a significantly longer CTG expansion size than those with normal visual-spatial abilities (p=0.04).INTERPRETATION Children and adolescents with childhood DM1 have frequent diagnoses on DSM-IV axis 1, with internalizing disorders being the most common type of disorder. They also have borderline low intelligence and frequent impairments in attention and visual-spatial construction abilities.Myotonic dystrophy type 1 (DM1) is the most frequently inherited neuromuscular disease, with autosomal dominant transmission. The estimated incidence is one in 8000 people.1 DM1 is a progressive neuromuscular disorder caused by the expansion of a cytosine-thymine-guanine (CTG) trinucleotide repeat. The unstable CTG repeat sequence is located in the 3¢ untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene on the long arm of chromosome 19. In the general population, the CTG repeat ranges from five to 37 units, whereas in DM1 it exceeds 50 units and can increase to several thousand units. Progressive expansion of CTG amplification appears unstable and is biased towards amplification. It explains both the anticipation phenomenon observed in DM1 pedigrees and the variable clinical expression among affected individuals.DM1 is classified according to clinical manifestations, severity, and age at onset.2 Four types of DM1 are distinguished:(1) a mild form with cataracts and minimal muscular or no symptoms with onset in middle or older age; (2) a typical form with neuromuscular symptomatology with onset in adolescence or early adult life; (3) a childhood form with learning disability ⁄ learning difficulties ofte...

show abstract

Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1

Douniol

Jacquette

Cohen

et al. 2012

Develop Med Child Neuro

View full text Add to dashboard Cite

show abstract

“…It was significantly correlated with poor motor performance expressed by MFM-P scores, which suggests it is a manifestation that evolves along disease course. Aring et al 17 documented swollen eyelids 'pseudoptosis' in their patients younger than 18 years, while blepharoptosis was reported to be rare.…”

Section: Discussionmentioning

confidence: 99%

Myotonic dystrophy type 1: frequency of ophthalmologic findings

Ikeda

Iwabe-Marchese

França

et al. 2016

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

The purpose of the study was to evaluate the frequency of ophthalmologic abnormalities in a cohort of myotonic dystrophy type 1 (DM1) patients and to correlate them with motor function. We reviewed the pathophysiology of cataract and low intraocular pressure (IOP). Method Patients were included after clinical and laboratory diagnosis and after signed informed consent. They were evaluated by Motor Function Measure scale, Portuguese version (MFM-P) and ophthalmic protocol. Results We evaluated 42 patients aged 17 to 64 years (mean 40.7 ± 12.5), 22 of which were men. IOP (n = 41) was reduced in all but one. We found cataract or positivity for surgery in 38 (90.48%) and ptosis in 23 (54.76%). These signs but not IOP were significantly correlated with severity of motor dysfunction. Abnormalities in ocular motility and stereopsis were observed. Conclusion Cataract and ptosis are frequent in DM1 and associated to motor dysfunction. Reduced IOP is also common, but appears not to be related with motor impairment.

show abstract