自闭症谱系障碍|症状和原因
What are the symptoms of autism spectrum disorder?
ASD affects every child differently. It’s not possible to simply say that one child is on the “low” end of the autism spectrum and another at the “high” end. Instead, each child will have different skills and different struggles.
尽管自闭症的症状在严重程度上有所不同，但描述ASD的核心行为是：
- difficulty with social communication and social interaction including: verbal and nonverbal communication, trouble developing and maintaining relationships, and deficits in initiating and responding to social cues
- 不寻常，有限或重复的行为（也称为“刻板印象”行为或刻板印象），强烈的利益和/或异常的感觉行为
这core symptoms of ASD may show up in different ways. Some children with ASD are nonverbal but can learn to communicate through other means. Others speak easily but aren’t good at using language to communicate with others. Some have unusual-looking behaviors; others do not. Some have severe cognitive impairments; others are very intelligent. Some children are easygoing, while others can get easily frustrated and may behave aggressively or injure themselves.
For some children, especially those whose ASD symptoms are less pronounced, symptoms may not be fully appreciated until the middle school years, late adolescence, or young adulthood when social demands increase.
这se symptoms typically occur in the first few years of life. You may even notice subtle differences before your child’s first birthday— like not making eye contact, not using gestures, or not responding to her name might beearly signs of autism。有时候，孩子们一开始正常发展，但随后停止获得新技能，甚至在18到24个月左右开始失去技能。
是什么引起自闭症谱系障碍？
Despite a lot of effort in research, the exact causes of ASD are not known. There are most likely different causes in different children. Researchers have identified certain risk factors, such as having a sibling with ASD or an older father, or having certain genetic conditions, but many children with ASD don’t have these factors.
许多研究表明，无论原因是什么，结果都是大脑中连接的组织方式的变化。大多数科学家也同意遗传学起作用。尽管许多不同的基因和染色体变化已与ASD联系在一起，但大多数遗传原因仍然未知。这些DNA变化中的一些可能是父母继承的，而其他DNA的变化可能只是在孩子中发生。波士顿儿童和其他地方的研究正在探索他们如何为儿童症状做出贡献。
In a small number of cases, a prenatal infection, injury, or other medical condition is thought to be involved in ASD. While it has been suggested that some vaccines may be a cause, a large amount of research shows that vaccines are not associated with ASD.
自闭症谱系障碍|Diagnosis & Treatments
Currently, there is no definitive laboratory test for autism spectrum disorder (ASD), though active research is looking for “biomarkers” including genetic tests and brain imaging tests, differences on脑电图（EEGS）和大脑成像测试。（自闭症研究计划正在发现6个月以下婴儿的生物标志物。）
但是，目前，根据孩子的症状和行为来诊断ASD。通常，初级保健儿科医生会建议专家进行评估。
我怎么知道我的孩子可能患有自闭症？
这些是ASD儿童父母在孩子中注意到的一些事情：
- 麻烦与他人互动或交流，包括家人
- trouble speaking or not speaking at all
- 表达自己的感受的困难
- 无法理解另一个人的感觉
- disinterest in physical contact with other people
- being withdrawn or preferring to do things by himself
- difficulty making friends
- 避免眼神接触
- 不使用诸如指向之类的手势
- 反复说单词或短语（“ Echolalia”）
- trouble understanding subtleties in language, like sarcasm or jokes
- repetitive motions, such as rocking or flapping hands or spinning in circles
- unusual rituals or ways of playing with toys
- a preference for routines, and anxiety when a routine is broken
- a particular area of interest that consumes a lot of his attention
- unusual sensory behaviors such as:
- being preoccupied with lights or moving objects
- 凝视着他的眼角
- dislike of certain kinds of sensory stimulation, such as loud noises
- craving other sensory inputs, such as deep pressure on his skin
It’s important to note that typically developing children can also show some of the above behaviors — like flapping their arms when they’re excited or having an unusually strong interest. In children who have ASD, however, these behaviors are more pronounced, more frequent, and tend to get in the way of doing other things. Sometimes other neurodevelopmental disorders, such as language or cognitive disorders, have symptoms that are similar to ASD.
For more information, visit the疾病控制与预防中心的ASD网站。In addition, the自闭症说话网站has a library of videos showing many of the behaviors of ASD.
Testing for autism spectrum disorder in children
在Autism Spectrum Center在波士顿儿童的ASD评估包括：
- a medical and neurological examination
- a review of your child’s cognitive abilities
- 评估孩子的言语和语言能力
- observation of your child’s behavior
- an in-depth conversation with you and your family about your child’s behavior and development
- 有关孩子家族史的问题
自闭症如何诊断？
进行ASD诊断仅仅是开始。然后，我们的临床医生将进行深入的评估，以了解您孩子的独特优势和挑战。该评估对于定义哪些教育计划和行为疗法至关重要。
We may involve a number of specialists, such as child neurologists, developmental behavioral pediatricians, speech-language pathologists, child psychologists and psychiatrists, nurse practitioners, educational specialists, and occupational therapists. Questions you may be asked include:
- What kind of language skills does your child have?
- At what age did his symptoms start?
- 他经历了一个回归的技能吗?
- 他有任何相关的认知或学习问题吗？
- Does he have any challenging behaviors?
- 他能够长时间关注吗？
如果合适，我们可能建议测试根据孩子的病史，体格检查结果以及认知和行为测试的结果寻找相关的医疗问题。例如，患有ASD的孩子经常有睡眠困难，，，，and some develop癫痫发作orepilepsy。我们的员工可以帮助您的孩子尽可能舒适地进行这项测试 - 阅读更多有关我们的工作，以使自闭症儿童更轻松地抽血。
其他测试可能包括：
- 听力和视力筛查，看看您的孩子是否有可能导致症状的问题
- blood lead testing
- Wood’s lamp exam, a special skin test to screen fortuberous sclerosis
- 代谢疾病的测试
- 神经影像学（例如MRI）
- 脑电图（EEG）
- nutritional evaluation for children who eat very limited foods
ASD的基因测试
At Boston Children’s Hospital, we recommend that all children who have been diagnosed with ASD get genetic testing to screen for specific DNA changes that have been linked to ASD and could cause other medical issues. For some families, information from genetic testing can also be important for family planning.
波士顿儿童ASD的基因测试目前包括染色体微阵列（CMA）测试和测试fragile X syndrome（在男孩中）。其他基因测试可能适合患有特定症状的儿童。由于发现新基因在ASD中很重要，因此可以将一些基因添加到常规测试中。
自闭症谱系障碍的行为疗法
If your child has just been diagnosed with autism spectrum disorder (ASD), you may feel you’ve entered a maze, trying to find the best therapies to help your child communicate, have meaningful interactions with others, and develop the skills he needs to reach his full potential.
A variety of intensive behavioral therapies can help children with ASD build language, social, and play skills. Most are provided through programs run by your state and local school system. They include early intervention services for children under age 3 and special education services for children age 3 and older.
我们可以推荐特定的疗法和教育策略，以满足您的孩子的长处，以满足您的孩子的需求。例如，有些孩子是强大的视觉学习者：他们可能不明白您是否在口头上解释某些东西，但可以立即从图片中掌握一个新想法。有些孩子可能不会说话或进行良好的眼神交流，但可以理解口语要求和解释。
In any case, experts agree that therapy should start as early as possible, should be intensive and highly structured, should be done one-on-one or in very small groups, and should actively include families. Often, children receive a combination of different therapies. The effectiveness of any therapy plan should be evaluated frequently, so that changes can be made if needed.
- Applied behavioral analysis (ABA) is a well-studied, often very effective therapy that identifies behaviors that need to be reduced and those that need to be reinforced. ABA involves practicing new skills repeatedly and creating positive reinforcements. The therapist breaks down new skills into small steps so a child can build more complex skills over time, and customizes the program to each child’s interests, abilities, and behavior.
- DIR®/ Floortime™a developmental relationship-based therapy that uses social relationships between caregivers and children to improve a child’s social and communication skills.
- Other relationship-based therapies include SCERTS® (Social Communication, Emotional Regulation and Transactional Supports) and RDI (Relationship Development Intervention).
我们自闭症谱系中心的团队包括ASD资源专家，他们将帮助您在发展和教育疗法中进行选择，并导航社区资源。在这里了解更多。
Additional therapies for ASD
Your child’s treatment program may also involve a number of other components:
- Speech-language therapycan help your child understand language and use it to express himself. At Boston Children’s, extensive services are offered through ourCenter for Communication Enhancement。
- Total communication interventions通过我们的Autism Language Programcan help your child use any possible means of communication — including speech, symbol systems, gestures, sign language, and innovative technologies.
- 职业和物理治疗may develop your child’s fine and gross motor skills (e.g., using her hands or other parts of her body), and dealing with sensory inputs from her environment.
是否有ASD的补充疗法？
Many families use complementary therapies such as supplements, diet changes, or alternative biomedical interventions. Our team is always happy to discuss these therapies with you, and we would want to be aware of any therapies that you’re considering.
不幸的是，尽管有很多轶事信息可用，尤其是在互联网上，但其中大多数治疗方法都没有得到很好的研究。即使被称为“天然”或“草药”，某些药物，草药疗法，维生素补充剂或特殊饮食，即使不正确使用，也可能是不安全或有害的。例如，许多家庭认为无麸质/无酪蛋白饮食，但是仔细实施对于避免营养问题很重要，从而影响您孩子的健康和成长。
有治疗自闭症吗?
目前尚无ASD核心症状的药物，尽管这是波士顿儿童的积极研究领域。但是，药物通常成功用于与ASD有关的症状，例如易怒，hyperactivity or attention problems，，，，焦虑，，，，or seizures. Often, once these related symptoms are treated, your child can make more progress with behavioral therapies for ASD itself.
Ongoing care
随着孩子的成长，他需要的疗法可能会改变。初步评估后，我们将密切关注您的孩子：
- 看看他的发展方式以及他的疗法如何为他工作
- make new recommendations for education and therapy
- watch for any related medical concerns
- discuss any questions and concerns you may have
我们的目标是为每个ASD的孩子过着积极快乐的生活。