Zou Xiaobing: Rare diseases that children with autism are prone to suffer from must be highly valued!

Today is the last day of February 2022, the International Day of Rare Diseases.

There is no strict uniform definition of rare diseases in countries around the world. For example, the United States designates diseases with less than 200,000 people as rare diseases, and the European Union treats diseases with a prevalence rate of less than 5/10,000, life-threatening or chronic progressive diseases as rare diseases.

However, in the field of developmental disorders and even autism, rare diseases are not uncommon!

Autism spectrum disorder is not a disease, but an umbrella term for a group of diseases. In addition to being classified by severity, it can also be divided into classical autism and symptomatic autism, of which symptomatic autism accounts for 20-30% of the total number of the spectrum.

Most symptomatic autism is a rare disease.

For example, what we often say include fragile X syndrome, tuberous sclerosis, LTECH syndrome and so on.

Today, Rice and Xiaomi invited Professor Zou Xiaobing to lead you to approach and understand the rare diseases in the autism spectrum disorder group that may be related to or cross spectrum symptoms.

01

Angel syndrome

Angel syndrome, also known as angelic syndrome, happy puppet syndrome, and Angermann syndrome, is a neurodevelopmental disorder caused by abnormal expression or functional defects in the expression of the UBE3A gene in the q11-13 region on chromosome 15. The incidence is 1/40,000 to 1/10,000.

Clinical manifestations are mental retardation and overall developmental delay, especially delayed language development, microcephaly, hyperactivity, there are ataxia, broad basal gait and limb tremor and other movement disorders, often have frequent unprovoked, incompatible with the surrounding environment bursts of laughter or smile, happy expression, clap hands and other happy behaviors.

There is no cure for the disease, but symptoms can decrease with age.

02

LTECH syndrome

LTECH syndrome, also known as small head syndrome, is a neurological disorder in children that is very similar to typical autism, and the patients are mostly female, with an incidence of 1/10,000 to 15,000, which is a rare disease.

Is LÄRT syndrome still autism spectrum disorder?

Many experts disagree that, indeed, LTECH syndrome should also be excluded from the autism spectrum disorder, but according to the definition of DSM-5, LTECH syndrome is still a type of autism spectrum disorder.

In the DSM-5 Additional Note on the Autism Spectrum, it is noted that after the diagnosis of autism spectrum disorder, the test should continue to be improved, including genetic examination to detect a variety of genetic abnormalities (single gene mutations, copy number variations) of autism spectrum disorders.

LTECH syndrome is one of them, which is caused by mutations or deletions in the MECP2 gene (and a few other genes).

In fact, there may be nearly a hundred rare diseases similar to LÄTTER syndrome in the autism spectrum disorder that are in urgent need of academic research and attention.

The occurrence and development of LTECH syndrome is staged, most of the children begin to develop at the age of 1 to 1 and a half years old, the initial stage will have obvious, multi-faceted functional regression stage, such as gradual loss of hand function, gradual loss of language, ataxia, respiratory abnormalities, etc., and then the overall function began to stabilize, and then began to develop, but the development will have many obstacles, there are also some children from birth, motor development, cognition, speech is seriously lagging behind.

Among them, LTECH syndrome in the early stage of the disease, about 2 years old, will show symptoms similar to typical autism: do not look at people, do not pay attention to people, do not listen to instructions, etc.; but other symptoms, such as small head, epilepsy, unique hand movements, loss of motor function in the later stage... Completely different from typical autism. We can also be screened for differentiation through genetic testing.

At present, there is no cure for LTECH syndrome or a definitive medical solution.

Children with autism need to receive early intensive interventions in early childhood in order to achieve a good prognosis. In the early life of LTECH's children, more attention should be paid to feeding and nursing, so that the child is in a relatively good physiological and comfortable state, and gradually carry out rehabilitation intervention activities according to the specific situation of the child.

1. LTECH children's bone density is relatively low, bone is easy to loosen, not suitable for high-intensity training

2. Children with LTECH syndrome are prone to accumulate substances that are easy to cause anxiety for pathological reasons, so the emotional problems of LTECH children cannot be generally regarded as psychological factors, and they often have to bear the uncontrollable emotions that are difficult to comfort, crying, and if they continue to study or train at this time, it is counterproductive.

03

Fragile X syndrome

Fragile X Syndrome is a recessive inheritance pattern from the X chromosome, which is inherited in addition to genetic mutations involving the X chromosome, but also involves CGG (Cytosine-Guanine)locus replication, so it is particularly complex and is not caused by unilateral inheritance by the mother.

In the offspring of a family, the symptoms of FXS often become more and more severe.

Mental retardation and autism (autism) in children are the most important clinical manifestations of Fragile X syndrome. If the patient shows symptoms of autism, then autism spectrum disorder can be diagnosed at the same time, and in the normal population, the incidence is about 1 in 3600 for boys and about 1 in 4000 to 6000 for girls.

Typical features of Fragile X syndrome also include large ears, long face, large testicles (postpuberty), developmental delay, learning difficulties, language delay, inattention, aggressive destructive behavior, hyperactivity, anxiety, and seizures.

Female patients will have slight changes in appearance, such as pointed faces and large ears, and 20% to 60% of them will be diagnosed with psychosocial disorders, the most common being depression, extensive developmental disorders, shyness and withdrawal of personality and anxiety.

Parents with the gene that causes fragility X syndrome have a second child and can test the child with villous hair or amniotic fluid at three to four months of pregnancy, and the results can be obtained in about one or two weeks.

04

Williams syndrome

Williams syndrome is a condition that behaves very similarly to autism, and there is also a golden stem expectation that if the child can be diagnosed early and receive intervention, the physical function and IQ will develop better than the child who does not intervene.

Williams syndrome refers to congenital diseases caused by abnormal gene arrangement, and patients are missing 20 genes on chromosome 7, an average of one in 20,000 people, and the main symptoms are:

1. The most typical is the cardiovascular problem, and the supra-aortic stenosis and pulmonary artery stenosis are typical manifestations.

2. Blood calcium is too high. Children become irritable, crying at night and unable to sleep soundly. If the child's blood calcium is not high, do not supplement calcium and vitamin D, especially if it is deficient, supplement vitamin D in moderation. Because the williams child's blood vessels are not elastic enough, calcium supplementation can cause the blood vessels to harden more, and in severe cases, even lead to calcification or hardening of the organs.

3. Developmental delay. Often born nearly 42 weeks later, the birth weight is lighter, the development of height and weight is also very slow, generally two years old to walk, three years old to speak.

4. When I was a child, I often showed low muscle tone and joint relaxation. As they grow up, the joints will gradually stiffen or even contracture, which needs to be improved by physical therapy.

5. Mental retardation. The vast majority of Williams' children have varying degrees of intelligence deficiencies, with IQ mostly between fifty and sixty.

6. Hernia problems. This phenomenon is also common, with a higher chance of getting a groin hernia and umbilical hernia.

7. Feeding problems. They don't eat their own food and need to be fed, which is related to their low muscle tone and insufficient ability to suck and swallow, which gradually improves with age.

8. Facial features. A little bit of a small nose, long in people, wide mouth, thick lips, small chin, large ears, cheeks are plump, eyelids are puffy, teeth are too large, some children can not see it when they are young, but with age, facial features will become more obvious.

9. Learning disabilities. Their weaknesses in spatial concepts, mathematical logic and fine motion are mainly reflected in their inability to do mathematics, their inability to understand the meaning of 1 + 1 = 2, their unwillingness to write with a pen, and their lack of concentration.

10. Special Talents. Sharp hearing, interest in music, good language skills, and gorgeous adjectives, but probably because of his or her lack of INTELLIGENCE, he/she himself will not fully understand the meaning of what he or she is saying. Social skills and memory are also the specialties of this group of children.

If the child is diagnosed with Williams syndrome, parents need to take the child back to the hospital regularly for follow-up examination, which is very important for the child's recovery and development.

05

Disintegrating disorders in children

Childhood disintegration disorder (CDD), also known as infant dementia, was first reported in 1908 by Dr. Theodore Heller, a special education specialist in Vienna, Austria, and in the fifth edition of the American Diagnostic and Statistical Manual of Mental Disorders, which is classified as an autism spectrum disorder in conjunction with autism, Asperger's syndrome, and atypical autism.

Foreign medical surveys show that the prevalence of disintegrating mental disorders in children is 1 in 100,000, and there is no obvious gender difference.

Patients generally develop completely normally before the age of two, and onset at 3 to 4 years of age is mainly manifested by the rapid deterioration of acquired self-care ability, social function and language function:

Language development disorders, decreased comprehension of language, poor language expression, inability to initiate or maintain conversations, and rigid or repetitive speech.

Interpersonal difficulties, lack of interpersonal skills, lack of non-verbal emotional communication, inability to establish normal peer relationships with peers, and inability to play role-playing games with peers.

Abnormal activities and interests, rigid and repetitive activities, or stereotyped movements and postures, general loss of interest in the surrounding things, limited to one or two hobbies.

Behavioral disintegration, some patients motor skills, urinary and urinary and other life self-care ability decline, salivation, accompanied by seizures.

It is currently understood that children's disintegrating mental disorders are much more complex and severe than autism, and the degraded ability is difficult to re-learn, often leaving behind severe mental retardation.

At present, the medical community for the treatment of children's disintegrating mental disorders and autism intervention methods are similar, parents must find the child's abnormalities in time in their lives, timely medical treatment, timely intervention, so that the child's original ability in the case of the greatest possible, the maximum retention and return.

Who will save rare patients?

Today is the International Day of Rare Diseases.

For the "rare disease" patients trapped in the darkness, this is a precious day to speak out in unison.

For families who have long struggled with "rare diseases" and coexisted, this is a rare opportunity to be seen by society.

Huang Rufang, founder of the China Rare Disease Development Center (CORD) and CEO of Root Health, told Rice and Xiaomi that there are more than 7,000 rare diseases known to all mankind, half of which are in childhood, and 80% are caused by genetic defects, and less than 10% of diseases have corresponding treatments.

Like autistic families, everyone hopes that government departments and scientific research organizations can invest enough scientific research to help patients realize "the sick have their own medicine" as soon as possible and regain a hopeful, equal and dignified social life.

Rare diseases are always in the corner of being ignored and forgotten in human society because they are "rare".

Therefore, Huang Rufang said: "The group of rare diseases, only we can save ourselves, and only when we act first, it is possible to bring about changes in our imagination." ”

If because of "rareness", rare disease patients and families are destined to emit only a faint light, then hopefully, more people can stand up, connect with each other, and emit more and greater light.