Delayed milestone | |
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Other names | Developmental delays |
Specialty | Pediatrics |
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. [1]
Each age group has its distinct set of milestones, representing behaviors that develop gradually and serve as foundational building blocks for growth and ongoing learning. These behavioral milestones fall into various categories of child development stages, including: [2] [3] [4]
Developmental delay is prevalent in approximately 1-3% of children under the age of 5 worldwide. [5] 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. [6] [7] For example, the prevalence of autism spectrum disorders was estimated to be 2.64%. [8] 95% of the children with these delayed milestones live in countries with low to middle income and have very limited availability of healthcare resources. [6] There is a risk of having a delayed milestone if a child live in an under-resourced nation. [7] [9]
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. [10] [ predatory publisher ] [11]
One cause of delayed milestone is the use of anti-epileptic medications such as valproate during pregnancy. [12] 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. [12]
Other anti-epileptic medications such as carbamazepine, clonazepam, and oxcarbazepine have been associated with an increased risk of developmental milestones in children while exposed prenatally. [12]
Children exposed to intimate partner violence have been associated with delayed milestones along with long term physical and mental health adverse effects. Trauma and toxic stress that stems from intimate partner violence interferes with the normal developmental processes of the brain. [13]
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. [13]
The Child Health Improvement through Computer Automation (CHICA) system measured developmental milestones under 4 domains: personal-social, language, fine motor-adaptive, and gross motor. According to the study, children exposed to intimate partner violence and parental psychological distress within the first 6 years of a child's life failed all 4 developmental domains of developmental milestones. [13]
Women taking antidepressants while pregnant may lead to delayed milestones in their child as well as reversible or permanent effects on fetal development. The occurrence of delayed milestone in children depends on the timing of exposure to antidepressants during pregnancy. Studies shown that children who were exposed to antidepressants during the second or third trimester of pregnancy were able to sit and walk later than children that were not exposed to antidepressants, however were still in the normal range of development. Fewer children took as long as 6 months to sit without support while some took even 19 months to support themselves. [14]
Currently, there is no consensus on a general diagnostic pathway and specific tests to approach the diagnosis of developmental delay in children. [15] 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. [1] The Centers for Disease Prevention and Control (CDC) program "Learn the Signs. Act Early" [16] 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. [17] 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. [15]
Assessment of developmental progress involves a combination of surveillance, screening tools, and other points to take into consideration: [1]
There are three U.S. organizations that provide varying recommendations in terms of when and how to screen children for developmental delays in children below the age of five, including the U.S. Preventative Services Task Force (USPSTF), Canadian Task Force on Preventative Health Care, and the American Academy of Pediatrics (AAP). [24] 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. [20] [25] 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 [26] also does not recommend screening asymptomatic children before the age of five with surveillance and screening tools. [20] [27] 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. [20] [24]
Biotinidase deficiency is an inherited disorder that affects how the body is able to process biotin. People will be diagnosed for biotinidase deficiency before they start showing symptoms. The symptoms presented include developmental delay, hair loss, seizures, and skin rash. [28] Treatment for biotinidase deficiency is biotin supplementation therapy every day. The treatment demonstrated developmental delay improvement within weeks of therapy. [28]
A risk factor for delayed milestones are infants that have direct contact with their mother's fluids who are HIV positive or suspected and become infected. [29] 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. [30]
There are children with inherited metabolism disorders that can be treated to help improve development. According to the study, treatments included the following types of therapies: [31]
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. [32] 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. [32]
A risk factor for delayed milestones is premature birth. The case study of a child born prematurely demonstrated improvement in developmental milestones with the use of physiotherapy. [33]
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. [34]
Pica is the eating or craving of things that are not food. It is classified as an eating disorder but can also be the result of an existing mental disorder. The ingested or craved substance may be biological, natural or manmade. The term was drawn directly from the medieval Latin word for magpie, a bird subject to much folklore regarding its opportunistic feeding behaviors.
Porencephaly is an extremely rare cephalic disorder involving encephalomalacia. It is a neurological disorder of the central nervous system characterized by cysts or cavities within the cerebral hemisphere. Porencephaly was termed by Heschl in 1859 to describe a cavity in the human brain. Derived from Greek roots, the word porencephaly means 'holes in the brain'. The cysts and cavities are more likely to be the result of destructive (encephaloclastic) cause, but can also be from abnormal development (malformative), direct damage, inflammation, or hemorrhage. The cysts and cavities cause a wide range of physiological, physical, and neurological symptoms. Depending on the patient, this disorder may cause only minor neurological problems, without any disruption of intelligence, while others may be severely disabled or die before the second decade of their lives. However, this disorder is far more common within infants, and porencephaly can occur both before or after birth.
Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. If untreated for several months after birth, severe congenital hypothyroidism can lead to growth failure and permanent intellectual disability. Infants born with congenital hypothyroidism may show no effects, or may display mild effects that often go unrecognized as a problem. Significant deficiency may cause excessive sleeping, reduced interest in nursing, poor muscle tone, low or hoarse cry, infrequent bowel movements, significant jaundice, and low body temperature.
Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation.
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. These disorders comprise developmental language disorder, learning disorders, developmental coordination disorders, and autism spectrum disorders (ASD). In broader definitions, attention deficit hyperactivity disorder (ADHD) is included, and the term used is neurodevelopmental disorders. Yet others include antisocial behavior and schizophrenia that begins in childhood and continues through life. However, these two latter conditions are not as stable as the other developmental disorders, and there is not the same evidence of a shared genetic liability.
A language delay is a language disorder in which a child fails to develop language abilities at the usual age-appropriate period in their developmental timetable. It is most commonly seen in children ages two to seven years-old and can continue into adulthood. The reported prevalence of language delay ranges from 2.3 to 19 percent.
Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person who is exposed to alcohol during gestation. FASD affects 1 in 20 Americans, but is highly mis- and under-diagnosed.
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency.
Neurodevelopmental disorders are a group of conditions that begin to emerge during childhood. According to the American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (DSM-5) published in 2013, these conditions generally appear in early childhood, usually before children start school, and can persist into adulthood. The key characteristic of all these disorders is that they negatively impact a person's functioning in one or more domains of life depending on the disorder and deficits it has caused. All of these disorders and their levels of impairment exist on a spectrum, and affected individuals can experience varying degrees of symptoms and deficits, despite having the same diagnosis.
3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria is an inborn error of leucine metabolism and is inherited through an autosomal recessive fashion. 3-Methylcrotonyl-CoA carboxylase deficiency is caused by mutations in the MCCC1 gene, formerly known as MMCA, or the MCCC2 gene, formerly known as MCCB. MCCC1 encodes the a-subunits of 3-methylcrotonyl-CoA carboxylase while MCCC2 encodes the b-subunits. The clinical presentation of 3-Methylcrotonyl-CoA carboxylase deficiency is varied, even within members of the same family.
The Denver Developmental Screening Test (DDST) was introduced in 1967 to identify young children, up to age six, with developmental problems. A revised version, Denver II, was released in 1992 to provide needed improvements. These screening tests provide information about a range of ages during which normally developing children acquire certain abilities and skills. By comparing a child’s development to the developmental age ranges in this tool, it allows providers to identify young children with developmental problems so that they can be referred for help.
Child development involves the biological, psychological and emotional changes that occur in human beings between birth and the conclusion of adolescence.
The floortime or Developmental, Individual-differences, Relationship-based (DIR) model is a developmental model for assessing and understanding any child's strengths and weaknesses. This model was developed by Stanley Greenspan and first outlined in 1979 in his book Intelligence and Adaptation.
Early detection of children with developmental-behavioral delays and disabilities is essential to ensure that the benefits of early intervention are maximized.
Global developmental delay is an umbrella term used when children are significantly delayed in two or more areas of development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech, cognitive skills, and social and emotional development. There is usually a specific condition which causes this delay, such as Cerebral Palsy, Fragile X syndrome or other chromosomal abnormalities. However, it is sometimes difficult to identify this underlying condition.
Autism, also called autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental disorder marked by deficits in reciprocal social communication and the presence of restricted and repetitive patterns of behavior. Other common signs include difficulty with social interaction, verbal and nonverbal communication, along with perseverative interests, stereotypic body movements, rigid routines, and hyper- or hyporeactivity to sensory input. Autism is clinically regarded as a spectrum disorder, meaning that it can manifest very differently in each person. For example, some are nonspeaking, while others have proficient spoken language. Because of this, there is wide variation in the support needs of people across the autism spectrum.
Child neglect, often overlooked, is the most common form of child maltreatment. Most perpetrators of child abuse and neglect are the parents themselves. A total of 79.4% of the perpetrators of abused and neglected children are the parents of the victims, and of those 79.4% parents, 61% exclusively neglect their children. The physical, emotional, and cognitive developmental impacts from early childhood neglect can be detrimental, as the effects from the neglect can carry on into adulthood.
Antenatal depression, also known as prenatal or perinatal depression, is a form of clinical depression that can affect a woman during pregnancy, and can be a precursor to postpartum depression if not properly treated. It is estimated that 7% to 20% of pregnant women are affected by this condition. Any form of prenatal stress felt by the mother can have negative effects on various aspects of fetal development, which can cause harm to the mother and child. Even after birth, a child born from a depressed or stressed mother feels the affects. The child is less active and can also experience emotional distress. Antenatal depression can be caused by the stress and worry that pregnancy can bring, but at a more severe level. Other triggers include unplanned pregnancy, difficulty becoming pregnant, history of abuse, and economic or family situations.
Valsamma Eapen is a chair of infant, child and adolescent psychiatry at UNSW Sydney. She is a fellow of the Royal Australian and New Zealand College of Psychiatrists, and the Royal College of Psychiatrists, UK.
The diagnosis of autism is based on a person's reported and directly observed behavior. There are no known biomarkers for autism spectrum conditions that allow for a conclusive diagnosis.