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Abstract：
BACKGROUND: Malan syndrome (MALNS), previously referred to as \"Sotos syndrome 2\" due to its resemblance to Sotos syndrome (SS), is an ultra-rare neurodevelopmental disorder characterized by overgrowth, typical craniofacial features, intellectual disability (ID), and a range of psychobehavioral, musculoskeletal, vision and neurological signs. As MALNS and SS partly overlap, it is essential to more accurately profile their clinical presentations and highlight their differences in order to improve syndrome specific management. An increasing number of individuals with MALNS reach adult-age though the natural history of the disorder is poorly characterized due to the small number of adult individuals described so far. As a consequence, current guidelines are limited to the pediatric population. Further delineation of MALNS is essential to optimize care in adulthood.
RESULTS: A mixed approach based on cross-sectional data collection with a survey disseminated to caregivers of adults with molecularly confirmed MALNS and literature review was conducted. Twenty-eight caregivers completed the survey. Clinical presentation in adulthood is multisystemic and defined by psychobehavioral comorbidities (96%), musculoskeletal involvement (96%), vision impairment (96%) and neurological complications (86%). The most common signs were anxiety (79%), hypotonia (75%), movement difficulty (75%), scoliosis (64%), problems with coordination (61%), strabismus (57%), constipation (54%), breastbone abnormalities (54%) and advanced bone age during childhood (54%). Impaired vision was complicated by vision decline (36%) and optic atrophy (32%). We report some previously unidentified features, including high pain threshold (46%), incontinence (25%), tremors (21%), muscle hypoplasia (18%) and tics (18%).
CONCLUSIONS: This survey in the adult population has allowed a more complete description of the natural history of MALNS. Our findings will contribute to the development and improvement of standards of care for adults with MALNS to assure optimal health monitoring and treatment of evolutive complications. We propose additional recommendations to the previous dataset of clinical evaluations specifically applied to adults. The comparison of MALNS and SS adult presentation highlights significant differences in terms of prevalence and severity of ID, behavioral issues, and vision problems, confirming that a proper differential diagnosis between the two conditions is indispensable to guide physicians and mental health professionals to syndrome specific management.
RESULTS: A mixed approach based on cross-sectional data collection with a survey disseminated to caregivers of adults with molecularly confirmed MALNS and literature review was conducted. Twenty-eight caregivers completed the survey. Clinical presentation in adulthood is multisystemic and defined by psychobehavioral comorbidities (96%), musculoskeletal involvement (96%), vision impairment (96%) and neurological complications (86%). The most common signs were anxiety (79%), hypotonia (75%), movement difficulty (75%), scoliosis (64%), problems with coordination (61%), strabismus (57%), constipation (54%), breastbone abnormalities (54%) and advanced bone age during childhood (54%). Impaired vision was complicated by vision decline (36%) and optic atrophy (32%). We report some previously unidentified features, including high pain threshold (46%), incontinence (25%), tremors (21%), muscle hypoplasia (18%) and tics (18%).
CONCLUSIONS: This survey in the adult population has allowed a more complete description of the natural history of MALNS. Our findings will contribute to the development and improvement of standards of care for adults with MALNS to assure optimal health monitoring and treatment of evolutive complications. We propose additional recommendations to the previous dataset of clinical evaluations specifically applied to adults. The comparison of MALNS and SS adult presentation highlights significant differences in terms of prevalence and severity of ID, behavioral issues, and vision problems, confirming that a proper differential diagnosis between the two conditions is indispensable to guide physicians and mental health professionals to syndrome specific management.
摘要：
背景：马兰综合征（MALNS），以前被称为“索托斯综合征2”，因为它与索托斯综合征(SS)相似，是一种以过度生长为特征的超罕见神经发育障碍，典型的颅面特征,智力残疾（ID），和一系列的心理行为，肌肉骨骼，视觉和神经体征。由于MALNS和SS部分重叠，更准确地描述他们的临床表现并突出他们的差异以改善综合征特异性管理至关重要.尽管由于迄今为止描述的成年个体数量很少，该疾病的自然史特征不佳，但越来越多的MALNS个体达到成年年龄。因此,目前的指南仅限于儿科人群.进一步划定MALNS对于优化成年期护理至关重要。
结果：进行了基于横断面数据收集的混合方法，并进行了一项调查，该调查传播给了具有分子确认的MALNS的成年人的护理人员，并进行了文献综述。28名护理人员完成了调查。成年期的临床表现是多系统的，并由心理行为合并症（96％）定义。肌肉骨骼受累（96%），视力障碍（96％）和神经系统并发症（86％）。最常见的症状是焦虑（79%），低张力（75％），运动难度（75%），脊柱侧弯（64%），协调问题(61%)，斜视（57%），便秘（54%），胸骨异常（54％）和儿童时期的骨龄（54％）。视力受损并发视力下降（36％）和视神经萎缩（32％）。我们报告了一些以前未知的特征，包括高疼痛阈值（46%），失禁（25%），震颤（21%），肌肉发育不全(18%)和抽搐(18%)。
结论：这项针对成年人群的调查使人们能够更完整地描述MALNS的自然史。我们的发现将有助于发展和改善MALNS成人的护理标准，以确保最佳的健康监测和进化并发症的治疗。我们对以前专门应用于成人的临床评估数据集提出了其他建议。MALNS和SS成人表现的比较突出了ID的患病率和严重程度方面的显着差异，行为问题,和视力问题，确认在两种情况之间进行适当的鉴别诊断对于指导医师和精神卫生专业人员进行综合征特定管理是必不可少的。
结果：进行了基于横断面数据收集的混合方法，并进行了一项调查，该调查传播给了具有分子确认的MALNS的成年人的护理人员，并进行了文献综述。28名护理人员完成了调查。成年期的临床表现是多系统的，并由心理行为合并症（96％）定义。肌肉骨骼受累（96%），视力障碍（96％）和神经系统并发症（86％）。最常见的症状是焦虑（79%），低张力（75％），运动难度（75%），脊柱侧弯（64%），协调问题(61%)，斜视（57%），便秘（54%），胸骨异常（54％）和儿童时期的骨龄（54％）。视力受损并发视力下降（36％）和视神经萎缩（32％）。我们报告了一些以前未知的特征，包括高疼痛阈值（46%），失禁（25%），震颤（21%），肌肉发育不全(18%)和抽搐(18%)。
结论：这项针对成年人群的调查使人们能够更完整地描述MALNS的自然史。我们的发现将有助于发展和改善MALNS成人的护理标准，以确保最佳的健康监测和进化并发症的治疗。我们对以前专门应用于成人的临床评估数据集提出了其他建议。MALNS和SS成人表现的比较突出了ID的患病率和严重程度方面的显着差异，行为问题,和视力问题，确认在两种情况之间进行适当的鉴别诊断对于指导医师和精神卫生专业人员进行综合征特定管理是必不可少的。
