Diagnosis is difficult! Average diagnosis time still takes a year! The global prevalence is on the rise.
Years later, Dai Rong's child, who once was a toddler that "started speaking at two and a half years old," "refused to make eye contact," and "loved playing with spinning toys," has grown into a young adult undergoing vocational training. She found that children with autism, like her son, still need about five years to be diagnosed.
Dai Rong is a council member of the Beijing Xiaogeng Disability Foundation and honorary chairman of the Guangzhou Yang'ai Special Children's Parents Club. She is also the mother of a child with autism. Many years ago, as a new mother, after discovering that her child still couldn't speak at one and a half years old, she spent over two years seeking help from multiple hospitals in Guangzhou. It wasn't until the child was about three years old and started kindergarten that the signs of "not fitting in" became increasingly evident, leading to a final diagnosis of autism at Zhongshan Third Hospital.
"In the year, our Xiaogeng Foundation conducted a nationwide survey on early screening for autism, and through proposals submitted by national人大代表 and政协委员 to the Two Sessions, we pushed for the introduction of policies on early screening and intervention for autism. The results of this survey shocked me – it still takes about a year to diagnose autism. Compared to many years ago, the time it takes to confirm a diagnosis for children has not been shortened." Dai Rong told Yicai.
Autism spectrum disorder (ASD, including autism) is a neurodevelopmental disorder with a rising global prevalence. Individuals with ASD typically exhibit communication and social interaction difficulties, restricted interests, and repetitive behaviors during childhood, earning them the nickname "children from the stars." In addition to the clinical manifestations of autism, children with ASD often experience intellectual developmental delays, epilepsy, motor developmental disorders, language developmental disorders, growth developmental disorders, behavioral disorders, sleep issues, digestive problems, or other physical illnesses.
一项基于全国多中心的流行病学调查显示,我国学龄期儿童ASD患病率为0.7%,男女比例为4:1。据此估算,我国612岁儿童中ASD患病人数为70万100万。早期干预对于孤独症儿童回归社会、提高生活质量尤为关键。目前,国家卫生健康委妇幼健康司已部署全国0至6岁孤独症儿童的早筛方案。
This work is in progress, but the foundation and progress of screening vary across regions. In the future, we hope that children with autism can be diagnosed around the age of 3, but currently, the average age at which they receive a diagnosis remains around 4 years old," said Xu Xiu, Director of the Department of Child Health at the National Children's Medical Center, affiliated with Fudan University, in an interview with Yicai during the "Peking University Medical Autism Symposium."
“不能剥夺孤独症儿童向人学习的机会”
在多年从事孤独症诊治的过程中,徐秀时而会看到一些孤独症患者在童年时期进入特殊学校,一些人成年后生活不能自理,还有一些“在康复训练三年后,还需要办理残疾证”。如此种种,徐秀认为,“原本可以很大程度上避免”。
The essence of autism is a social communication disorder. That is, autistic children are not born with intellectual disabilities, but rather possess the ability to learn without the desire to learn from others. In their eyes, a chair may be more reliable than a person. If not intervened in time, autistic children will never be able to regard 'people' as an important goal in their daily interactions, which means their opportunities to learn from others are subtly deprived. Xu Xiu said.
From basic self-care survival skills to initial language comprehension and expression abilities, and then to basic social etiquette, Xu Xiu believes that without learning and developing these basic life skills, behavioral norms, and communication abilities, the intellectual level of children with autism will be impaired and gradually fall below that of their peers. The longer the delay, the more opportunities for children with autism to learn from others are deprived due to the condition, resulting in greater damage to their intellectual development and physical and mental health.
In her view, it is true that individuals with autism have a weaker cognitive level compared to their peers, but "early intervention" can significantly enhance their basic living skills, behavioral norms, communication abilities, and quality of life in adulthood, thereby preventing the "cascading damage" to the brain caused by the disorder.
Ma Hongwei, Director of the Health Commission of Jinan City, Shandong Province, mentioned at a related press conference held by the National Health Commission at the end of this month that autism generally manifests before the age of 3, with the primary intervention method being rehabilitation training. The optimal treatment period is before the age of 6, especially if scientific intervention is received before the age of 3, which can to varying degrees improve the child's symptoms and prognosis. Therefore, early screening and early intervention for autism are extremely important.
确诊之难
事实上,孤独症儿童的早期干预并不容易达成,关键堵点就出在了“确诊难”上。由于孤独症发病机制至今不明,缺少可有效识别孤独症谱系障碍的客观生物标志物,在该疾病被发现、命名后的80余年里,其诊断仍依赖于症状学证据。
Xu Xiu stated that currently, there is no single diagnostic method that can definitively inform clinicians that a child is an autistic patient. The symptomatic diagnosis is based on the heterogeneity of autism spectrum disorders, using "behavioral symptoms in the social and communication domains" as the most reliable clinical indicators. However, this diagnosis involves certain subjectivity and difficulties.
On one hand, according to relevant research, in children's daily lives, % exhibit normal behavior, while only % exhibit abnormal behavior. Within the short clinical diagnosis time of ~ minutes, it is highly likely that negative symptoms (behaviors indicating skill deficits) in social and communication behaviors may not be observed; on the other hand, for children, social behavior capabilities are not entirely absent; they may simply occur less frequently or not as naturally in various corresponding scenarios as in normal children.
According to the "Expert Consensus on Early Identification, Screening, and Early Intervention for Children," clinicians can observe whether the attending children exhibit "five not" behaviors, namely, not (rarely) looking, not (rarely) responding, not (rarely) pointing, not (rarely) speaking, and improper (referring to inappropriate use of objects and related perceptual abnormalities, such as arranging toy cars very neatly in a row or being obsessed with spinning wheels), and make comprehensive judgments based on relevant professional behavioral assessment scales.
"Research shows that even professionals, if they only evaluate based on everyday parent-child interactions captured in photos, can have a missed diagnosis rate of %, let alone the fact that there are currently limited professionals in China capable of diagnosing autism, making it difficult to meet the rising demand for autism diagnosis." Xu Xiu said.
There is a view in the industry that, ideally, children with autism can be identified around the age of one. Professor Yi Li from the School of Psychological and Cognitive Sciences at Peking University told Yicai that although autism is related to genetics, the genetic basis of autism is complex and not a single-gene issue, which means that autism cannot be detected through prenatal screening like Down syndrome.
Regarding newborns, their development during infancy varies widely among individuals, with some progressing at a slower pace. For instance, some children may lag slightly in development at certain months, but catch up to normal levels by other months. Additionally, young children have low cooperation during diagnosis, so objectively, it is currently difficult for technology to advance the screening of autism to infants under one year old.
An expert consensus published by an international multidisciplinary expert committee also states that for infants under a certain age, there are no reliable behavioral markers. However, in reality, Xu Xiu notes that both domestically and internationally, it is often not until around the age of 3 that children with autism are diagnosed.
In the United States, the average age of diagnosis for children is years old; in China, a nationwide epidemiological survey led by the team from the Children's Hospital of Fudan University and conducted in eight major cities showed that among the school-aged (years old) children diagnosed with , % were diagnosed for the first time. According to statistics from the Autism Special Clinic of the Department of Child Health Care at Fudan Children's Hospital, the average age of diagnosis for children among the "free consultation" group, where parents actively bring their children for treatment, is . months. Xu Xiu said.
Yi Li believes that the "stigma" associated with the disease and some parents' misconceptions about the illness have also contributed to the delay in early diagnosis for children. "For example, there is a type known as Asperger's syndrome. Compared to typical autistic children, their language and cognitive development are relatively normal, and they may even exhibit certain talents in some areas. For such children, parents may be more likely to overlook their difficulties in social interaction and communication, making them harder to identify," Yi Li said.
“三级筛查”的地方探索
“将被动诊断变为主动筛查”,是孤独症早期干预的关键。2010年、2016年,国家医保局以准入的方式将包括孤独症诊断访谈量表(ADI)测评项目、精神障碍作业疗法训练等医疗康复项目纳入基本医疗保险支付范围。2022年,国家卫健委办公厅发布《0~6岁儿童孤独症筛查干预服务规范(试行)》。
The National Health Commission mentioned in a reply to a proposal from the Democratic Progressive Central Committee at the end of the month that currently, provinces (municipalities) such as Beijing, Hubei, Hunan, Guangdong, and Shaanxi have launched pilot projects for screening and intervention services for children with autism aged ~. Even before the National Health Commission's nationwide early screening plan was implemented, some cities, regions, and medical institutions had already begun early screening of infants.
Starting from the end of the year, Tianjin has initiated early screening for childhood autism in community health service centers. Autism checks have been incorporated into routine physical examinations for children at 18 months (one and a half years) and 24 months (two years). This initiative is integrated into the local basic public health service system, with the required funding jointly borne by the national and local governments.
In Tianjin, when infants and toddlers undergo routine pediatric health check-ups at community hospitals, community doctors trained in the initial stages of autism diagnosis conduct autism screenings. Children who test positive in the initial screening are referred to higher-level hospitals for further evaluation.