Psychomotor developmental abnormalities in children

Introduction Rett syndrome is a disease that seriously affects children's psychomotor development, with an incidence of 1 in 10,000-1/15,000 girls. The clinical features are girls' onset, progressive intellectual decline, autism behavior, hand disuse, stereotyped movements and ataxia.

Cause

The etiology and genetic pattern are still unclear.

an examination

Related inspection

Brain MRI examination, cranial CT examination, cysterineuria screening

(1) Nine required standards:

1. Normal before birth and perinatal period.

2, 6 months of birth (can be up to 18 months) mental exercise is normal.

3. The head circumference is normal at birth.

4, 5 months to 4 years old head circumference growth slowed down.

5, 6 months to 2 years and a half lost the skills of the purposeful hand that has been obtained, and the ability of social interaction has declined.

6. The ability to express and understand language is severely impaired, and severe mental retardation develops.

7. Stereotypes of the hand, such as writing, washing hands, clapping, tapping, biting, twisting, picking up hands, etc., appear after the movement of the purposeful hand disappears.

8, 1-4 years old ataxia gait and body loss.

9, until 2-5 years old, can make a tentative diagnosis.

(2) Eight supporting standards

1. Abnormal breathing: When awake, intermittently apnea, intermittently over-ventilate, hold your breath, gaze, and compulsively spit saliva and air.

2, EEG abnormalities: slow wave background or paroxysmal slow rhythm; epileptiform discharge, seizures may be optional.

3, contracture: related to muscle use and muscle tension.

4, horror.

5. Abnormal movement of peripheral blood vessels.

6, scoliosis.

7. Slow growth.

8, atrophic small feet.

(3) Seven exclusion criteria

1. Intrauterine growth retardation.

2. Increased internal organs or other signs of accumulated disease.

3, retinopathy or optic atrophy.

4. The little head at birth.

5. Evidence of acquired brain injury during perinatal.

6. There are positive metabolic diseases or other progressive neuropathy.

7. Neuropathy acquired due to severe infection or head trauma.

Clinical stage of Rett syndrome:

The clinical manifestations of Rett syndrome have a certain stage and are age-related and are divided into four phases:

Phase I: It lasts for several months from the time of onset of 6-18 months. It is characterized by developmental stagnation, sluggish head growth, no interest in play and the surrounding environment, and low muscle tone.

Phase II: From the age of 1-3, it lasts for weeks to months. Expressed as rapid development and irritability, hand disuse and stereotypes, convulsions, autism, language loss, insomnia, self-abuse.

Stage III: From the age of 2-10 years, lasting for several months to several years, manifested as severe mental regression or significant mental retardation, and improved autism. Convulsions, typical hand stereotypes, obvious ataxia, physical disability, increased reflexes, stiff limbs, apnea during wakefulness, good appetite but weight loss, early scoliosis, teething.

Stage IV: 10 years of age or older, lasting for several years, manifested as signs of upper and lower motor neuron involvement, progressive scoliosis, muscle disuse, stiff body, atrophy of both feet, loss of independent walking ability, growth retardation, can not Understanding and using language, eye-to-eye communication resumes, and the frequency of horror declines.

Differential diagnosis

1. Social withdrawal in childhood: Strictly speaking, it is not a mental illness. But that is the performance of bad psychology (especially bad personality), which hinders children's interpersonal relationships. So it can be classified as a psychological barrier.

2. Children's slowness of action: If the child is too quiet or slow, it may be a manifestation of childhood obsessive-compulsive disorder. The so-called child obsessive-compulsive disorder is a mental disorder that occurs in children and adolescents, with obsessions and forced movements as the main manifestations.

3, children's behavior is secluded: children are so isolated, afraid to see people, always unhappy, indifferent to everything, or to lose their temper, do not concentrate on things, persist in poor, we must pay attention. For such a situation, many parents think that it is a child's personality characteristics, do not care. In fact, these children have got "high-rise autism", which is a new kind of mental illness for children.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.