Myotonic Dystrophy Type 1 Congenital and Juvenile Form: From Diagnosis to Rehabilitation
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- cognitive evaluation by Raven Matrices
研究概览
简要总结
The rationale of the study is to collect structured data in the neuropsychological, clinical neuroradiologic and neurorehabilitation fields in children/young people affected by congenital and juvenile myotonic dystrophy. Children affected by the congenital form (CDM1) present important brain alterations present since birth while, on the contrary, patients with the adult form of DM1 often present a degenerative, slowly progressive neurocognitive picture. Promising therapies that aim to correct the molecular mechanism underlying the symptoms of adult forms of DM1 are under development, but their potential role at the level of the nervous system and in particular in forms of CDM1 (which appears to be a distinct disorder of neuronal development) is also to be clarified.
To this end, a better definition of neurocognitive profiles and their evolution is essential for the purposes of evaluating the effectiveness of experimental therapies.
详细描述
A. Recruitment of patients with a defined diagnosis of Myotonic Dystrophy type 1 (see following inclusion and exclusion criteria)
B) Clinical and cognitive evaluation
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neurological and neuromuscular examination, compilation of the MIRS-muscle scale and EPWORTH scale-daytime sleepiness (1 session of approximately 1 hour);
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administration of a neuropsychological battery, in order to define the level of cognitive functioning and to frame a detailed function-specific profile (multiple sessions to be defined based on the collaboration of the patients) investigating the following areas:
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intelligence quotient;
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attention;
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memory;
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visual-constructive skills and executive functions
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psychiatric examination and administration of psychological tests (MMPI-2, Minnesota Multiphasic Personality Inventory 2) to investigate any psychopathologies (behavioral disorders, anxiety disorders, developmental disorders, hyperactivity/attention deficit) and to define the psychological-behavioral profile and adaptive (Vineland Adaptive Behavioral Scale)
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neuroimaging examination through Morphological magnetic resonance and Diffusor Tensor imaging and Voxel Based Morphometry protocols
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based on the clinical conditions, a cardiological evaluation will also be carried out (including instrumental tests such as Electrocardiogram ECG, echocardiogram and 24-hour ECG) and pneumological evaluation (with recording of nocturnal oximetry, spirometry), eye examination, phoniatric examination and logopedic evaluation (aimed at evaluating chewing/swallowing)
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Other
入排标准
- 年龄范围
- 1 Year 至 35 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
cognitive evaluation by Raven Matrices
时间窗: through study completion,an average of 2 years
Raven Matrices , Z scores=/\> 0,00 (in range); Z scores =/\< -2,00 (deficiency)
cognitive evaluation by Continous Performance Test 3
时间窗: through study completion,an average of 2 years
Continous Performance Test 3: T mean Scores 50 SD 10 (SD: standard deviation) (T=45-59 in range; T =/\>60 below range)
cognitive evaluation by Rey Figure test
时间窗: through study completion,an average of 2 years
Rey Figure test: Z scores=/\> 0,00 (in range); Z scores =/\< -2,00 (deficiency):
cognitive evaluation by Digit Span and CORSI Test
时间窗: through study completion,an average of 2 years
Digit Span and CORSI Test:Z scores=/\> 0,00 (in range); Z scores =/\< -2,00 (deficiency)
cognitive evaluation by Wechsler Intelligence scale
时间窗: through study completion,an average of 2 years
Wechsler Intelligence scale: mean score 100 SD 15 (SD: Standard Deviation):deficiency when 2 Standard Deviation below average)
Motor function evaluation by Muscular Impairment Rating Scale
时间窗: through study completion,an average of 2 years
Muscular Impairment Rating Scale (MIRS) in assessing patients with myotonic dystrophy type 1 (DM1). The MIRS is a ordinal five-point rating scale, where grade 1 = no clinical muscular impairment; grade 2 = early muscular impairment (clinical myotonia, facial weakness, and weakness of neck flexors) without limb weakness; grade 3 = distal weakness; grade 4 = mild to moderate (3 ≤ core \< 5) proximal weakness; grade 5 = severe (MRC score\<3)proximal weakness proximal weakness
cognitive evaluation by Trail Making Test A-B
时间窗: through study completion,an average of 2 years
Trail Making Test A-B: Z scores=/\> 0,00 (in range); Z scores =/\< -2,00 (deficiency)
次要结局
- clinical evaluation by Epworth Sleepiness Scale(through study completion,an average of 2 years)
- cognitive evaluation by Wisconsin Card Sorting Test(through study completion,an average of 2 years)
- cognitive evaluation by Tower of London test(through study completion,an average of 2 years)
- cognitive and behavioral evaluation by Vineland Adaptive Behavior Scales(through study completion :an average of 2 years)
- cognitive and behavioral evaluation by Minnesota Multiphasic Personality Inventory(through study completion,an average of 2 years)