Расстройства развития у детей: причины, диагностика и генетика.

Developmental disorders comprise a group of psychiatric conditions originating in childhood that involve serious impairment in different areas. There are several ways of using this term. The most narrow concept is used in the category "Specific Disorders of Psychological Development" in the ICD 10. In broader definitions ADHD is included, and the term used is neurodevelopmental disorders. Young children with communication disorders may not speak at all, or may have a limited vocabulary for their age. Some children with communication disorders have difficulty understanding simple directions or are unable to name objects. Normal development occurs with a combination of contributions from both the environment and genetics. The theories vary in the part each factor has to play in normal development, thus affecting how the abnormalities are caused. In his works he compares developmental disorders in traumatized children to adults with post traumatic stress disorder, linking extreme environmental stress to the cause of developmental difficulties. A 2017 study tested all 20,000 genes in about 4,300 families with children with rare developmental difficulties in the UK and Ireland in order to identify if these difficulties had a genetic cause. They found 14 new developmental disorders caused by spontaneous genetic mutations not found in either parent (such as a fault in the CDK13 gene). They estimated that about one in 300 children are born with spontaneous genetic mutations associated with rare developmental disorders.

The first diagnosed case of ASD was published in 1943 by American psychiatrist Leo Kanner. There is a wide range of cases and severity to ASD so it is very hard to detect the first signs of ASD. A diagnosis of ASD can be made accurately before the child is 3 years old, but the diagnosis of ASD is not commonly confirmed until the child is somewhat older. The age of diagnosis can range from 9 months to 14 years, and the mean age is 4 years old in the USA. On average each case of ASD is tested at three different diagnostic centers before confirmed. Early diagnosis of the disorder can diminish familial stress, speed up referral to special educational programs and influence family planning. The occurrence of ASD in one child can increase the risk of the next child having ASD by 50 to 100 times.

The cause of ASD is still uncertain. What is known is that a child with ASD has a pervasive problem with how the brain is wired. Genes related to neurotransmitter receptors (serotonin and gamma aminobutyric acid [GABA]) and CNS structural control (HOX genes) are found to be potential target genes that get affected in ASD. Autism spectrum disorder is a disorder of the many parts of the brain. Structural changes are observed in the cortex, which controls higher functions, sensation, muscle movements, and memory. Structural defects are seen in the cerebellum too, which affect the motor and communication skills. Sometimes the left lobe of the brain is affected and this causes neuropsychological symptoms. The distribution of white matter, the nerve fibers that link diverse parts of the brain, is abnormal. The corpus callosum, the band of nerve fibers, that connects the left and right hemispheres of the brain also gets affected in ASD. A study also found that 33% of people who have AgCC (agenesis of the corpus callosum), a condition in which the corpus callosum is partially or completely absent, had scores higher than the autism screening cut off. An ASD child's brain grows at a very rapid rate and is almost fully grown by the age of 10.

The symptoms have a wide range of severity. The symptoms of ASD can be broadly categorised ABA focuses on teaching adaptive behaviors like social skills, play skills, or communication skills and diminishing problematic behaviors like self injury. This is done by creating a specialized plan that uses behavioral therapy techniques, such as positive or negative reinforcement, to encourage or discourage certain behaviors over time. Occupational therapy helps autistic children and adults learn everyday skills that help them with daily tasks, such as personal hygiene and movement. These skills are then integrated into their home, school, and work environments. Therapists will oftentimes help patients learn to adapt their environment to their skill level. This type of therapy could help autistic people become more engaged in their environment. An occupational therapist will create a plan based on the patient's needs and desires and work with them to achieve their set goals. Speech language therapy can help those with autism who need to develop or improve communication skills. According to the organization Autism Speaks, “speech language therapy is designed to coordinate the mechanics of speech with the meaning and social use of speech”. The SLP will create a plan that focuses on what the child needs. Sensory integration therapy helps people with autism adapt to different kinds of sensory stimuli. Many children with autism can be oversensitive to certain stimuli, such as lights or sounds, causing them to overreact. Others may not react to certain stimuli, such as someone speaking to them. Many types of therapy activities involve a form of play, such as using swings, toys and trampolines to help engage the patients with sensory stimuli. ADHD is twice as common in boys than girls but it is seen that the hyperactive/impulsive type is more common in boys while the inattentive type affects both sexes equally.

Symptoms of ADHD include inattentiveness, impulsiveness, and hyperactivity. Many of the behaviors that are associated with ADHD include poor control over actions resulting in disruptive behavior and academic problems. Another area that is affected by these disorders is the social arena for the person with the disorder. Many children that have this disorder exhibit poor interpersonal relationships and struggle to fit in socially with their peers.

Sessions of counselling, cognitive behavioral therapy (CBT), making environmental changes in noise and visual stimulation are some behavioral management techniques followed. But it has been observed that behavioral therapy alone is less effective than therapy with stimulant drugs alone.

Medications commonly utilized in the treatment of Attention Deficit Hyperactivity Disorder (ADHD) include stimulants like methylphenidate and lisdexamfetamine, as well as non stimulants such as atomoxetine. These medications can effectively manage ADHD symptoms by targeting neurotransmitter imbalances. However, it is important to be aware of potential side effects associated with these medications. Common side effects may include headaches, which can often be mitigated by adjusting the dosage or administration timing. Gastrointestinal discomfort, including stomach pain or nausea, is another possible side effect, and taking the medication with food or modifying the dosage may help alleviate these symptoms. Additionally, while rare, changes in mood such as feelings of depression have been reported. Careful monitoring and communication with healthcare providers are essential to address and manage any side effects, ensuring the overall effectiveness and well being of individuals undergoing ADHD treatment. SSRI antidepressants may be unhelpful, and could worsen symptoms of ADHD. However ADHD is often misdiagnosed as depression, particularly when no hyperactivity is present.