Intellectual Developmental Disorder

智力发育障碍
  • 文章类型: Review
    患有神经精神疾病的人对刑事司法系统中的法医专家和辩护律师提出了特定和独特的挑战。本文回顾了两种潜在的刑事辩护:法律上的精神错乱以及在整个美国的司法管辖区中使用的各种法律标准或刑事责任测试(即,M'Naghten标准和美国法律研究所的示范刑法典),以及对能力下降的部分法律辩护(缺乏被认定犯有特定意图罪所必需的精神状态)。评估刑事责任或能力下降的过程也特别强调了在评估患有智力发育障碍(智力残疾)的被告时出现的常见问题,Parasninas,癫痫发作,和神经认知障碍。
    Persons with neuropsychiatric disorders present specific and unique challenges for forensic experts and defense attorneys in the criminal justice system. This article reviews two potential criminal defenses: legal insanity and the various legal standards or tests of criminal responsibility that are used in jurisdictions throughout the United States (i.e., the M\'Naghten standard and the American Law Institute\'s Model Penal Code), and the partial legal defense of diminished capacity (lacking the mental state necessary to be found guilty of a specific intent crime). The process of evaluating criminal responsibility or diminished capacity is also presented with a specific emphasis on common issues that arise in evaluating defendants with Intellectual Developmental Disorder (Intellectual Disability), Parasomnias, Seizure Disorders, and Neurocognitive Disorders.
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  • 文章类型: Journal Article
    目的:评估由特殊护理牙医设计的名为“保留我的牙齿”的模块化教学训练干预措施,为一系列医疗保健学生提供为智力发育障碍(PwIDD)患者的口腔护理。
    方法:为了评估干预措施,采用了一组前测试后测试前实验研究设计。干预是通过虚拟平台或面对面进行的,部分参与者也接受了实践培训。医疗保健学生包括言语和语言治疗(SLT),注册护士智力残疾(RNID),牙科科学(DS),牙科护理(DN),牙科卫生(DH)。
    结果:147名受训人员中有63名完成了所有调查。对于大多数培训后的群体,人们对障碍的看法发生了重大变化,随着对PwIDD跨学科提供口腔护理的信心的增加;参加实践培训的DH/DN学生中有67%认为没有实践培训的教学培训同样有效,而42%的DS学生认为这是真的。
    结论:提供的培训干预措施似乎提高了研究参与者对护理障碍的认识,并提高了他们的自我效能感,和表演的意图,口腔护理行为。
    OBJECTIVE: To evaluate a modular didactic training intervention called Keep My Teeth designed by special care dentists, for a range of healthcare students to provide oral homecare for people with intellectual developmental disorders (PwIDD).
    METHODS: To evaluate the intervention a one-group pre-test post-test pre-experimental research design was utilized. The intervention was delivered by virtual platforms or face-to-face, with a sub-sample of participants also receiving practical training. Healthcare students included Speech and Language Therapy (SLT), Registered Nurse Intellectual Disability (RNID), Dental Science (DS), Dental Nursing (DN), and Dental Hygiene (DH).
    RESULTS: Sixty-three of the 147 trainees completed all surveys. A significant change in perspective on barriers was seen for most groups post-training, with an increase in confidence in delivering oral care to PwIDD across disciplines; 67% of DH/DN students who took part in the practical training felt that the didactic training was just as effective without the practical training, while 42% of the DS students felt that was true.
    CONCLUSIONS: The training interventions provided seem to have increased the awareness of study participants in relation to barriers to care, and increased their self-efficacy towards, and intention to perform, oral homecare behaviors.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    MTSS2相关神经发育障碍(MTSS2相关NDD)(MIM620086)的特征是智力发育障碍,伴有眼部异常和独特的面部特征(IDDOF)。迄今为止,唯一的现有报告描述了五名表现出相同的从头c.20111C>T的个体(p。MTSS2基因中的Arg671Trp)变体。在这里,我们报道了一例新的MTSS2相关NND病例,该病例发生在1例男性异卵双生子,表现为IDDOF和严重智力障碍.该患者还表现出额外的临床特征,包括低功能自闭症,甲状腺功能减退,十二指肠梗阻继发于拉德带,腹股沟疝,隐睾,短暂性骨膜下新骨形成,身材矮小,骨龄延迟,以前没有报道过与MTSS2相关的NDD。外显子组测序确定了复发的c.2011C>T(p。MTSS2基因中的Arg671Trp)变体。母亲和另一个双胞胎的致病性变异检测呈阴性,而父亲无法参与研究。该病例证实MTSS2相关的NDD是由复发性MTSS2错义变异p.Arg671Trp引起的。在我们的患者中发现的新发现扩展了与这种新的常染色体显性实体相关的表型谱,但仍需进一步研究其遗传和临床表现。
    MTSS2-related neurodevelopmental disorder (MTSS2-related NDD) (MIM 620086) is characterized by intellectual developmental disorder with ocular anomalies and distinctive facial features (IDDOF). The only existing report to date described five individuals who exhibited an identical de novo c.2011C>T (p.Arg671Trp) variant in the MTSS2 gene. Herein, we report a new case of MTSS2-related NND in a male dizygotic twin who presented with IDDOF and severe intellectual disability. This patient also displayed additional clinical features, including low functioning autism, hypothyroidism, duodenal obstruction secondary to Ladd\'s bands, inguinal hernias, cryptorchidism, transient subperiosteal new bone formation, and short stature with delayed bone age, which had not been previously reported in association with the MTSS2-related NDD. Exome sequencing identified the recurrent c.2011C>T (p.Arg671Trp) variant in the MTSS2 gene. The mother and the other twin tested negative for the pathogenic variant, while the father\'s participation in the study was unavailable. This case confirms that the MTSS2-related NDD is caused by the recurrent MTSS2 missense variant p.Arg671Trp. The novel findings identified in our patient expand the phenotypic spectrum associated with this new autosomal dominant entity, but further studies on its genetic and clinical manifestations are still needed.
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  • 文章类型: Journal Article
    背景:久坐不动的生活方式的智障青少年(ID)可能导致成年期慢性心血管疾病的风险增加。这项研究的目的是探讨8周渐进跳绳训练对身体的影响,中等ID的高中生心血管健康和运动耐量。
    方法:将34名具有ID的高中(15-18岁)随机分为实验组,实验组接受渐进性跳绳运动(RS,n=17)和对照组无跳绳运动干预组(CON,n=17)。RS组进行渐进性跳绳锻炼,每次50min,一周三次,八个星期。对照组在研究期间不允许参与干预活动。身体健康,身体成分,在8周干预前后测量动脉僵硬指数(ASI)和血压.
    结果:经过为期8周的渐进式跳绳运动干预后,来自RS组的参与者在3分钟步长测试中增加,仰卧起坐测试,握力和坐姿测试,与基线相比(P<0.05)。RS组运动后恢复时心率曲线下面积(HR)较低(P<0.05)。RS组的参与者显示收缩压(SBP)和舒张压(DBP)显着降低,与基线相比,平均动脉压(MAP)和HR(P<0.05)。SBP的变化与ASI的变化呈中度正相关。
    结论:这项实验的结果表明,渐进式跳绳运动可以改善身体素质,促进心血管健康,以及增强中等ID的青少年学生的运动耐受力。
    BACKGROUND: Adolescents with intellectual disabilities (ID) who live a sedentary lifestyle may lead to an increased risk of chronic cardiovascular disease in adulthood. The aim of this study is to investigate the effects of 8-week progressive rope skipping training on physical, cardiovascular fitness and exercise tolerance of high school students with moderate ID.
    METHODS: Thirty-four senior high school with ID (aged 15-18 years old) were randomised into experimental group received progressive skipping rope exercise (RS, n = 17) and control group no rope skipping exercise intervention group (CON, n = 17). The RS group were received progressive rope skipping exercise for 50 min each time, three times a week, for 8 weeks. The control group was not allowed to participate in intervention activities during the study period. The physical fitness, body composition, arterial stiffness index (ASI) and blood pressure were measured before and after the 8-week intervention.
    RESULTS: After the 8-week progressive skipping rope exercise intervention, the participants from the RS group increased in the 3-min step test, sit-up test, grip strength and sit and reach test, when compared to the baseline (P < 0.05). The RS group exhibited lower the area under curve of heart rate (HR) during post-exercise recovery (P < 0.05). The participants in the RS group showed significant decreases in systolic (SBP) and diastolic (DBP) blood pressure, mean arterial pressure (MAP) and HR when compared to the baseline (P < 0.05). Change SBP has moderate positive correlation with change ASI.
    CONCLUSIONS: The results of this experiment suggest that progressive rope skipping exercise might improve physical fitness and promote cardiovascular health, as well as enhance exercise tolerance for adolescent students with moderate ID.
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  • 文章类型: Journal Article
    SETD2属于组蛋白甲基转移酶蛋白家族,并与具有不同临床和分子特征的三个在病理学上不同的实体相关:Luscan-Lumish综合征(LLS),智力发育障碍,常染色体显性70(MRD70),和Rabin-Pappas综合征(RAPAS)。LLS[MIM#616831]是一种过度生长障碍,包括智力障碍,说话延迟,自闭症谱系障碍(ASD),大头畸形,身材高大,和电机延迟。RAPAS[MIM#6201551]是一种最近报道的多系统疾病,其特征是全球和智力发育严重受损。低张力,喂养困难,未能茁壮成长,小头畸形,和畸形的面部特征。其他神经系统发现可能包括癫痫发作,听力损失,眼科缺陷,和大脑成像异常。其他器官系统的参与是可变的,包括骨骼,泌尿生殖系统,心脏,和潜在的内分泌。据报道,在SETD2中携带错义变异p.Arg1740Gln的三名患者患有中度智力障碍,言语困难,和行为异常。更多的变量发现包括张力减退和异形特征。由于与前两种表型的差异,这个协会后来被命名为智力发育障碍,常染色体显性70[MIM620157]。这三种疾病似乎是等位基因,是由功能丧失引起的,函数增益,或SETD2基因中的错义变体。在这里,我们描述了18例SETD2变异的新患者,其中大多数具有LLS表型,并回顾了先前在科学文献中报道的33例SETD2变异患者。本文提供了LLS患者的报告数量的扩展,并强调了与SETD2相关的三种表型之间的临床特征以及相似性和差异。
    SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan-Lumish syndrome (LLS), intellectual developmental disorder, autosomal dominant 70 (MRD70), and Rabin-Pappas syndrome (RAPAS). LLS [MIM #616831] is an overgrowth disorder with multisystem involvement including intellectual disability, speech delay, autism spectrum disorder (ASD), macrocephaly, tall stature, and motor delay. RAPAS [MIM #6201551] is a recently reported multisystemic disorder characterized by severely impaired global and intellectual development, hypotonia, feeding difficulties with failure to thrive, microcephaly, and dysmorphic facial features. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and potentially endocrine. Three patients who carried the missense variant p.Arg1740Gln in SETD2 were reported with a moderately impaired intellectual disability, speech difficulties, and behavioral abnormalities. More variable findings included hypotonia and dysmorphic features. Due to the differences with the two previous phenotypes, this association was then named intellectual developmental disorder, autosomal dominant 70 [MIM 620157]. These three disorders seem to be allelic and are caused either by loss-of-function, gain-of-function, or missense variants in the SETD2 gene. Here we describe 18 new patients with variants in SETD2, most of them with the LLS phenotype, and reviewed 33 additional patients with variants in SETD2 that have been previously reported in the scientific literature. This article offers an expansion of the number of reported individuals with LLS and highlights the clinical features and the similarities and differences among the three phenotypes associated with SETD2.
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  • 文章类型: Randomized Controlled Trial
    背景:以前没有研究报道过智障成年人(IDs)经历抑郁症的心理治疗结果的预测因素和调节因素。我们根据一项随机对照试验调查了基线变量作为结果预测因子和调节因子,该试验将行为激活与指导自助进行了比较。
    方法:本研究是对随机临床试验期间收集的数据进行的探索性二次数据分析。参与者(n=161)随机接受行为激活或指导自助,并随访12个月。如果先前已证明治疗前变量与患有ID的成年人患抑郁症的风险增加有关,或者已被报道为心理治疗抑郁症的潜在预测因子或调节因子,则将其包括在内。主要结果衡量标准,格拉斯哥抑郁量表(GDS-LD),在混合效应回归分析中用作因变量,测试结果的预测因子和调节因子,与基线GDS-LD,治疗组,研究中心和抗抑郁药的使用作为固定效应,和治疗师作为随机效应。
    结果:较高的基线焦虑(与焦虑增加1分相关的结果平均差0.164,95%置信区间[CI]0.031,0.297;P=0.016),较低的表现智商(IQ)(与IQ增加1分相关的结果平均差异0.145,95%CI0.009,0.280;P=0.037)和听力障碍(平均差异3.449,95%CI0.466,6.432;P=0.024)是较差结果的预测因素,而基线时抑郁症状的严重程度更高(与抑郁症增加1分相关的结局的平均差异-0.160,95%CI-0.806,-0.414;P<0.001),更高的变化预期(与变化预期增加1分相关的平均结局差异-1.013,95%CI-1.711,-0.314;p0.005)和更高的治疗疗程百分比(治疗疗程百分比增加1分的平均结局差异-0.058,95%CI-0.099,-0.016;P=0.007)是校正随机分组后治疗结果更积极的预测因素.最终模型包括抑郁和焦虑症状的严重程度,较低的WASI性能IQ子量表,听力障碍,12个月时GDS-LD总评分差异的35.3%(R2=0.353,F4,128=17.24,P<0.001).没有证据表明基线变量对行为激活或指导自助治疗的结果有调节作用。
    结论:我们的结果表明,基线变量可能是成人ID患者心理治疗结果的有用预测因子。需要进一步的研究来检查这些潜在预测因子的价值。然而,我们的研究结果表明,在使用心理疗法治疗患有IDs的成年人所经历的抑郁症时,治疗师会考虑基线变量如何使他们能够调整治疗方法.
    No previous studies have reported predictors and moderators of outcome of psychological therapies for depression experienced by adults with intellectual disabilities (IDs). We investigated baseline variables as outcome predictors and moderators based on a randomised controlled trial where behavioural activation was compared with guided self-help.
    This study was an exploratory secondary data analysis of data collected during a randomised clinical trial. Participants (n = 161) were randomised to behavioural activation or guided self-help and followed up for 12 months. Pre-treatment variables were included if they have previously been shown to be associated with an increased risk of having depression in adults with IDs or have been reported as a potential predictor or moderator of outcome of treatment for depression with psychological therapies. The primary outcome measure, the Glasgow Depression Scale for Adults with Learning Disabilities (GDS-LD), was used as the dependant variable in mixed effects regression analyses testing for predictors and moderators of outcome, with baseline GDS-LD, treatment group, study centre and antidepressant use as fixed effects, and therapist as a random effect.
    Higher baseline anxiety (mean difference in outcome associated with a 1 point increase in anxiety 0.164, 95% confidence interval [CI] 0.031, 0.297; P = 0.016), lower performance intelligence quotient (IQ) (mean difference in outcome associated with a 1 point increase in IQ 0.145, 95% CI 0.009, 0.280; P = 0.037) and hearing impairment (mean difference 3.449, 95% CI 0.466, 6.432; P = 0.024) were predictors of poorer outcomes, whilst greater severity of depressive symptoms at baseline (mean difference in outcome associated with 1 point increase in depression -0.160, 95% CI -0.806, -0.414; P < 0.001), higher expectation of change (mean difference in outcome associated with a 1 point increase in expectation of change -1.013, 95% CI -1.711, -0.314; p 0.005) and greater percentage of therapy sessions attended (mean difference in outcome with 1 point increase in percentage of sessions attended -0.058, 95% CI -0.099, -0.016; P = 0.007) were predictors of more positive outcomes for treatment after adjusting for randomised group allocation. The final model included severity of depressive and anxiety symptoms, lower WASI performance IQ subscale, hearing impairment, higher expectation of change and percentage of therapy sessions attended and explained 35.3% of the variance in the total GDS-LD score at 12 months (R2  = 0.353, F4, 128  = 17.24, P < 0.001). There is no evidence that baseline variables had a moderating effect on outcome for treatment with behavioural activation or guided self-help.
    Our results suggest that baseline variables may be useful predictors of outcomes of psychological therapies for adults with IDs. Further research is required to examine the value of these potential predictors. However, our findings suggest that therapists consider how baseline variables may enable them to tailor their therapeutic approach when using psychological therapies to treat depression experienced by adults with IDs.
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  • 文章类型: Observational Study
    背景:NANS-CDG是由NANS中的双等位基因变体引起的一种先天性糖基化障碍(CDG),编码从头唾液酸合成中必不可少的酶。它表现为智力发育障碍(IDD),骨骼发育不良,神经损伤,和胃肠功能紊乱。一些患者患有进行性智力神经系统恶化(PIND),强调需要治疗。在之前的研究中,在敲除nansa斑马鱼中补充唾液酸部分挽救了骨骼异常。这里,我们在NANS-CDG中进行了首次人体产前和产后唾液酸研究.
    方法:在这项开放标签观察研究中,5例NANS-CDG患者(0-28岁)口服唾液酸治疗15个月。主要结果是安全性。次要结果是精神运动/认知测试,身高和体重,癫痫控制,骨骼健康,胃肠道症状和生化和血液学参数。
    结果:唾液酸耐受性良好。在产后治疗的患者中,没有显着改善。对产前治疗的病人来说,精神运动和神经系统发育优于其他两名基因型相同的患者(一名在出生后接受治疗,一个未经处理)。
    结论:唾液酸治疗的效果可能取决于时机,产前治疗可能有利于神经发育结果。然而,证据有限,并且需要对更多的产前治疗患者进行长期随访.本文受版权保护。保留所有权利。
    NANS-CDG is a congenital disorder of glycosylation (CDG) caused by biallelic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. It presents with intellectual developmental disorder (IDD), skeletal dysplasia, neurologic impairment, and gastrointestinal dysfunction. Some patients suffer progressive intellectual neurologic deterioration (PIND), emphasizing the need for a therapy. In a previous study, sialic acid supplementation in knockout nansa zebrafish partially rescued skeletal abnormalities. Here, we performed the first in-human pre- and postnatal sialic-acid study in NANS-CDG. In this open-label observational study, 5 patients with NANS-CDG (range 0-28 years) were treated with oral sialic acid for 15 months. The primary outcome was safety. Secondary outcomes were psychomotor/cognitive testing, height and weight, seizure control, bone health, gastrointestinal symptoms, and biochemical and hematological parameters. Sialic acid was well tolerated. In postnatally treated patients, there was no significant improvement. For the prenatally treated patient, psychomotor and neurologic development was better than two other genotypically identical patients (one treated postnatally, one untreated). The effect of sialic acid treatment may depend on the timing, with prenatal treatment potentially benefiting neurodevelopmental outcomes. Evidence is limited, however, and longer-term follow-up in a larger number of prenatally treated patients is required.
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  • 文章类型: Journal Article
    背景:近一半的CP儿童经历智力障碍,对学业成绩有影响。
    目的:使用CP方法和程序评估小学适龄儿童的认知和学业功能:这项基于人群的队列研究评估了93名参与者(男性n=62;平均=9岁9个月,SD1y1.8个月)对流体和结晶智力的测量(Raven的彩色渐进矩阵,皮博迪图片词汇测试)和学业成绩(韦克斯勒个人成就测试)。分析包括t检验,皮尔逊卡方和回归。
    结果:41名(44.1%)儿童符合智力发育障碍标准。学术技能显著低于人口平均单词阅读(M=85.4,SD=19.3),t(66)=-6.2,p<.001;拼写(M=83.3,SD=19.7)t(65)=-6.87,p<.001;和数字运算(M=72.9,SD=21.7)Z=66.0,p<.001。认知能力与GMFCS水平(χ²(1,N=93)=16.15,p<.001)和癫痫诊断(χ²(2,N=93)=11.51p=.003)相关。结晶智能和流体智能一起占单词阅读差异的65%,56%的拼写和52%的数字操作。
    结论:许多患有CP的儿童经历学业挑战。建议对所有患有CP的儿童进行筛查,并在患有CP的儿童经历学业困难时进行全面的心理教育评估。
    BACKGROUND: Nearly half of all children with CP experience intellectual impairment, with impacts on academic achievement.
    OBJECTIVE: To assess cognitive and academic functioning for primary-school aged children with CP METHODS AND PROCEDURES: This population-based cohort study assessed 93 participants (male n = 62; mean = 9 years 9 months, SD 1 y 1.8 months) on measures of fluid and crystallised intelligence (Raven\'s Coloured Progressive Matrices, Peabody Picture Vocabulary Test) and academic achievement (Wechsler Individual Achievement Test). Analyses included t-tests, Pearson\'s chi-square and regression.
    RESULTS: 41 (44.1%) children met criteria consistent with intellectual developmental disorder. Academic skills were significantly below population means on word reading (M= 85.4, SD = 19.3), t(66) = -6.2, p < .001; spelling (M=83.3, SD=19.7) t(65) = -6.87, p < .001; and numerical operations (M=72.9, SD=21.7) Z = 66.0, p < .001. Cognitive ability was associated with GMFCS level (χ² (1, N = 93) = 16.15, p < .001) and diagnosis of epilepsy (χ² (2, N = 93) = 11.51 p = .003). Crystallised and fluid intelligence together accounted for 65% of the variance in word reading, 56% in spelling and 52% in numerical operations.
    CONCLUSIONS: Many children with CP experience academic challenges. Screening is recommended for all children with CP and full psychoeducational assessment undertaken when children with CP experience academic difficulties.
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  • 文章类型: Journal Article
    UNASSIGNED:验证多领域计算机化认知训练对智力发育障碍(IDD)儿童的智力功能和适应功能的影响。
    UNASSIGNED:将患有IDD的儿童随机分为多领域计算机化认知训练(CCT)组(n=30)和对照组(n=30)。两组均接受为期5周的培训计划。通过中国韦克斯勒幼儿量表(C-WYCSI)评估智力功能,通过中国葡萄园适应行为评定量表(VABS-C)评估适应性功能,在基线时使用,培训后,和3个月的随访。
    UNASSIGNED:两组之间的智力功能和适应性功能存在显着差异。CCT组在韦氏智力量表(F[60]=31.97,p<0.01)和其子域VIQ得分(F[60]=33.83,p<0.01)的总全面智商(FSIQ)得分上显着改善。对于自适应功能,CCT有较好的适应性发育商(ADQ)评分(F[60]=28.05,p<0.01),和子域沟通(F[60]=10.86,p<0.01)和社会化得分(F[60]=4.35,p<0.015)。此外,CCT组FSIQ变化与ADQ变化呈正相关(rs=0.74,p<0.01)。在CCT组中,VIQ评分的增加与适应性功能的增加有关(bootstrappingCI:[0.16,3.30])。
    UNASSIGNED:多领域CCT改善了IDD儿童的智力功能和适应功能。
    UNASSIGNED: To verify the effects of multi-domain computerized cognitive training on intellectual function and adaptive functioning in children with intellectual developmental disorder (IDD).
    UNASSIGNED: Children with IDD were randomized to a multi-domain computerized cognitive training (CCT) group (n = 30) and control group (n = 30). Both groups received a 5-week training program. Intellectual function was assessed by Chinese-Wechsler Young Children scale (C-WYCSI) and adaptive functioning was assessed by the Chinese Vineland Adaptive Behavior Rating Scale (VABS-C), which were used at baseline, post-training, and 3-month follow-up.
    UNASSIGNED: There were significant differences for intellectual function and adaptive functioning between the two groups. The CCT group showed significant improvements in total full-scale intelligence quotient (FSIQ) score the Wechsler Intelligence Scale (F[60] = 31.97, p < 0.01) and its subdomain VIQ score (F[60] = 33.83, p < 0.01). For adaptive functioning, CCT had a better adaptive developmental quotient (ADQ) score (F[60] = 28.05, p < 0.01), and subdomain communication (F[60] = 10.86, p < 0.01) and socialization scores (F[60] = 4.35, p < 0.015). Moreover, there was a positive correlation between FSIQ changes and ADQ changes in the CCT group (rs = 0.74, p < 0.01). A greater increase in VIQ score was associated with a greater increase in adaptive functioning (bootstrapping CI: [0.16, 3.30]) in the CCT group.
    UNASSIGNED: Multi-domain CCT improves the intellectual function and adaptive functioning of children with IDD.
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