Задержки развития у детей: причины, диагностика и распространенность.

A delayed milestone, which is also known as a developmental delay, refers to a situation where a child does not reach a particular developmental milestone at the expected age. Developmental milestones refer to a collection of indicators that a child is anticipated to reach as they grow older. Adaptive skills: Activities of daily living, such as putting on clothes, eating, and washing independently. Cognition and intellect: Involves thinking, solving problems, making judgements and comprehension. Emotional expression: Includes facial movements, such as a smile when happy, or an action, such as giving a gift to express gratitude
Language: Being able to communicate verbally with speech and/or nonverbally with gesture
Motor coordination: Encompasses both gross and fine motor skills, such as jumping and drawing. Sensory: Vision, hearing, touch, taste, smell
Social interaction: Involves the ability to initiate contact with peers and engage in group play.

Developmental delay is prevalent in approximately 1 3% of children under the age of 5 worldwide. According to a systematic analysis done for a conducted study in 2016, there are approximately 52.9 million children worldwide under the age of 5 that are affected by some type of developmental delay or delayed milestone. For example, the prevalence of autism spectrum disorders was estimated to be 2.64%. 95% of the children with these delayed milestones live in countries with low to middle income and have very limited availability of healthcare resources.

Delayed milestones can manifest as early as infancy and develop later in early school years. Many factors contribute to delayed milestone such as medications, trauma, environmental, genetics, and metabolic and there are some cases where delayed milestones are idiopathic.

One cause of delayed milestone is the use of anti epileptic medications such as valproate during pregnancy. According to the study, there is an association between prenatal exposure to valproate and delayed milestones and intellectual disabilities. The risk of children having delayed developmental milestones is significantly higher compared to children without valproate exposure. Pregnant women taking higher doses of valproate have a higher risk of intellectual disabilities and delayed milestones compared to lower doses. Parental psychological distress such (PPD) as anxiety and depression have been associated with delayed milestones. PPD interferes with healthy attachment between parent and child which increases the risk of the child having behavioral and cognitive problems.

Currently, there is no consensus on a general diagnostic pathway and specific tests to approach the diagnosis of developmental delay in children. Keeping the child development stages or milestones in mind, closely monitoring these social emotional, cognitive, behavioral and motor sensory milestones can provide important clues about a child's overall development. The Centers for Disease Prevention and Control (CDC) program "Learn the Signs. Act Early" provides materials for parents to reference and keep track of child development at specified milestones starting from two months old up to five years of age. If there are any missed milestones that may be a concern for the parent, these materials can help initiate a conversation with the primary care physician and assign the child with more specific testing to assess the child's developmental progress. Identifying and addressing early signs, symptoms, and risk factors of developmental delay in children with an effective management strategy have shown an overall positive improvement in cognitive and academic performance and outcomes. Significant delays in one or more of the defined child developmental milestones is typically diagnosed by the primary care physician as a delayed milestone or as Global developmental delay. Attentive supervision through surveillance footage alongside an age appropriate milestone checklist to document observations will help gain a better understanding of the child's overall developmental progress and confirm a potential diagnosis following discussion of the findings with parents. Child Development Review Parent Questionnaire, and Parents' Evaluation of Developmental Status. Each of these tests differ in terms of whether the screener is completed by the child or the parent, sensitivity, specificity, the age range assigned, and the time to complete and generate a score. Genetics: With proper informed consent, obtaining a family history is an important factor to include in the diagnostic process for a child presenting with symptoms and/or missed milestones. An identified genetic risk factor or cause can be used to determine a more specific approach to address any documented delayed milestones. Genetic testing is the first line approach if a child (less than 5 years old) has no identified external factor(s) contributing to delayed milestone. It is more efficient and cost effective to perform comprehensive evaluations with the available diagnostic screening tools prior to investigations in cases without an identified external factor or genetic cause for the child's delayed milestone. Physical Examination: Completed at all scheduled well child visits, examining the growth parameters, such as head circumference and body mass index (BMI), are within range can help ensure proper child growth development. Since performing brain imaging is not standard practice for diagnosing developmental delay in children, the imaging results alone are insufficient to affirm that any delayed milestones are due to any potential brain abnormalities observed through brain imaging procedures. If any brain abnormalities are observed with neuroimaging, further investigation may be pursued to determine the potential underlying cause for any missed milestones in child development. The USPSTF provides limited information on developmental delay as a whole since it only screens for communication delays and autism, specifically speech and language. Due to lack of evidence supporting asymptomatic children benefitting from repeated early screening and surveillance at well child visits before the age of five, the USPSTF does not recommend screening for communication delays for children showing no symptoms of developmental delay. Additionally, if there are no concerns by the parent or pediatrician in terms of any developmental delays, then the Canadian Task Force on Preventative Health Care also does not recommend screening asymptomatic children before the age of five with surveillance and screening tools. On the other hand, the AAP does have specific recommendations for developmental and autism screening regardless of the child showing any delayed milestones or not. Treatment for biotinidase deficiency is biotin supplementation therapy every day. The treatment demonstrated developmental delay improvement within weeks of therapy. There is improvement with developmental milestones for infected infants treated by antiretroviral therapy compared to infected infants who are not. Important to note, infected infants treated for HIV demonstrated delayed milestones compared to infants who are not infected with HIV.

Many children have different forms of language and speech disorders, which can be classified as primary disorder or disorders secondary to known conditions. Secondary and tertiary prevention can be detected if the child has other health conditions such as autism, cleft palate, global developmental delay and intellectual disability, hearing loss, known genetic variation, neurological disorder, or other health conditions. The treatment for children with language and speech delay is a speech language pathologist. Speech and language therapy has demonstrated improvement in some disorders, but not all.

Recurrent depletion is when there are different findings that do not match with any recognizable syndrome. Recurrent depletion is mostly passed down from the parent to the child. The treatment for recurrent depletion is treating the specific clinical findings that the person has. People with developmental delays were treated with developmental therapies and specific learning styles.