Global developmental delay

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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. [1] 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. [2]

Contents

Other terms associated with this condition are failure to thrive (which focuses on lack of weight gain and physical development), intellectual disability (which focuses on intellectual deficits and the changes they cause to development) and developmental disability (which can refer to both intellectual and physical disability altering development).[ citation needed ]

Causes

Developmental delay can be caused by learning disabilities, in which case the delay can usually be overcome with time and support - such as with physiotherapists, occupational therapists, vision therapists, and speech and language therapists. [3] Other causes which may cause a permanent delay in development include genetic disorders such as Down syndrome, Fragile X syndrome and GLUT1 Deficiency Syndrome; childhood infections such as meningitis or encephalitis, and metabolic disorders such as hypothyroidism. Metabolic disorders are more likely to cause delayed development in older children, as many congenital metabolic problems which are easily managed are screened for in the neonatal period. Child born prematurely (born before 37 weeks). The use of toxic substances in pregnancy, particularly alcohol, can lead to developmental delay if they affect the neurological development of the fetus, such as in fetal alcohol syndrome. Even though there are many known causes of delay, some children will never receive a diagnosis. [3]

Diagnosis

Developmental monitoring is performed during wellness visits to check a child's development. [4] Health authorities encourage parents to monitor their child's development, the CDC's program "Learn the Signs. Act Early" [5] provides materials for a child's development is assessed based on expected milestones for actions like how they play, learn, speak, act and move. [6] Missed milestones may be cause for concern, so the doctor or another specialist may call for a more thorough test or exam to take a closer look, this is usually done by going through Developmental Screening.[ citation needed ]

Developmental Screening is a more involved process. The evaluating professional will ask a parent to complete a research-based questionnaire that asks about a child's development, including language, movement, thinking, behavior, and emotions. Developmental Screening is recommended by the American Academy of Pediatrics (AAP) to all children at 9, 18, and 30 months. The AAP also recommends that all children be screened specifically for autism spectrum disorder (ASD) during regular well-child visits at 18 and 24 months. [4] [7] If a Developmental Screening indicates a delay, the child should then be assessed with a Developmental Evaluation.[ citation needed ]

Developmental Evaluations are performed by a Developmental pediatrician, child psychologist, or other trained provider with the purpose of Identifying and diagnosing developmental delays and conditions. [4]

Neonatal screening is used in the UK (Guthrie test) and can diagnose certain inborn errors of metabolism before they cause significant developmental problems, with the aim to manage them so that no permanent damage occurs.[ citation needed ]

Canada, the US, and the Netherlands offer more extensive newborn screening, encompassing some other amino acid, organic, and urea cycle disorders. [8]

Management

The specific management of children with global developmental delay will depend on their individual needs and underlying diagnosis. Early intervention is essential to support the child to reach their full potential. Specialists involved in the management of GDD in children include: [9]

As well as involving professionals, parents can support the development of their child by playing with them, reading with them, showing them how to do tasks, and supporting them to participate in activities of daily living such as washing, dressing, and eating. [10]

See also

Related Research Articles

The diagnostic category pervasive developmental disorders (PDD), as opposed to specific developmental disorders (SDD), was a group of disorders characterized by delays in the development of multiple basic functions including socialization and communication. It was defined by the Diagnostic and Statistical Manual of Mental Disorders (DSM), and the International Classification of Diseases (ICD).

<span class="mw-page-title-main">Galactosemia</span> Medical condition

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, motor disorders, and autism spectrum disorders. In broader definitions 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.

Hypotonia is a state of low muscle tone, often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy and/or occupational therapy for remediation.

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology, a science based on the study of the enzymes and their products. Finally, inborn errors of metabolism were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism, was published in 1923.

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Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain, in the embryo is disrupted. The result of this is that the fibers that would otherwise form the corpus callosum are instead longitudinally oriented along the ipsilateral ventricular wall and form structures called Probst bundles.

<span class="mw-page-title-main">Metabolic disorder</span> Medical condition

A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are autosomal recessive.

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.

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.

Early childhood intervention (ECI) is a support and educational system for very young children who have been victims of, or who are at high risk for child abuse and/or neglect as well as children who have developmental delays or disabilities. Some states and regions have chosen to focus these services on children with developmental disabilities or delays, but Early Childhood Intervention is not limited to children with these disabilities.

<span class="mw-page-title-main">Alström syndrome</span> Rare genetic disorder involving childhood obesity and multiple organ dysfunction

Alström syndrome (AS), also called Alström–Hallgren syndrome, is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy. Endocrine disorders typically also occur, such as hypergonadotrophic hypogonadism and hypothyroidism, as well as acanthosis nigricans resulting from hyperinsulinemia. Developmental delay is seen in almost half of people with Alström syndrome.

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.

<span class="mw-page-title-main">Young–Simpson syndrome</span> Medical condition

Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, intellectual disability, and postnatal growth retardation.

<span class="mw-page-title-main">Intellectual disability</span> Generalized neurodevelopmental disorder

Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under the DSM-5 as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives.

Several factors complicate the diagnosis of Asperger syndrome (AS), an autism spectrum disorder (ASD). Like other ASD forms, Asperger syndrome is characterized by impairment in social interaction accompanied by restricted and repetitive interests and behavior; it differs from the other ASDs by having no general delay in language or cognitive development. Problems in diagnosis include disagreement among diagnostic criteria, the controversy over the distinction between AS and other ASD forms or even whether AS exists as a separate syndrome, and over- and under-diagnosis for non-technical reasons. As with other ASD forms, early diagnosis is important, and differential diagnosis must consider several other conditions.

<span class="mw-page-title-main">Creatine transporter defect</span> Medical condition

Creatine transporter deficiency (CTD) is an inborn error of creatine metabolism in which creatine is not properly transported to the brain and muscles due to defective creatine transporters. CTD is an X-linked disorder caused by mutation in SLC6A8. SLC6A8 is located at Xq28. Hemizygous males with CTD express speech and behavior abnormalities, intellectual disabilities, development delay, seizures, and autistic behavior. Heterozygous females with CTD generally express fewer, less severe symptoms. CTD is one of three different types of cerebral creatine deficiency (CCD). The other two types of CCD are guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency. Clinical presentation of CTD is similar to that of GAMT and AGAT deficiency. CTD was first identified in 2001 with the presence of a hemizygous nonsense change in SLC6A8 in a male patient.

Developmental regression is when a child who has reached a certain developmental stage begins to lose previously acquired milestones. It differs from developmental delay in that a child experiencing developmental delay is either not reaching developmental milestones or not progressing to new developmental milestones, while a child experiencing developmental regression will lose milestones and skills after acquiring them. Developmental regression is associated with diagnoses of autism spectrum disorder, childhood disintegrative disorder, Rett syndrome, Landau-Kleffner syndrome, and neuro-degenerative diseases. The loss of motor, language, and social skills can be treated with occupational therapy, physical therapy, and speech therapy.

<span class="mw-page-title-main">Early childhood development</span> Rapid physical, psychological and social growth

Early childhood development is the period of rapid physical, psychological and social growth and change that begins before birth and extends into early childhood. While early childhood is not well defined, one source asserts that the early years begin in utero and last until 3 years of age.

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.

References

  1. ↑ "Global development delay". Mencap. Retrieved 2018-11-25.
  2. ↑ Srour, Myriam; Mazer, Barbara; Shevell, Michael I (2006). "Analysis of Clinical Features Predicting Etiologic Yield in the Assessment of Global Developmental Delay". Pediatrics. 118 (1): 139–145. doi:10.1542/peds.2005-2702. PMID   16818559. S2CID   19036421.
  3. 1 2 "Global Developmental Delay (GDD) – Information & Support – Contact". contact.org.uk. Retrieved 2018-11-25.
  4. 1 2 3 CDC (2020-06-25). "Developmental Monitoring and Screening – CDC". Centers for Disease Control and Prevention. Retrieved 2020-10-23.PD-icon.svg This article incorporates text from this source, which is in the public domain .
  5. ↑ CDC (2020-05-14). ""Learn the Signs. Act Early." has FREE child development tools". Centers for Disease Control and Prevention. Retrieved 2020-10-23.
  6. ↑ CDC (2020-06-10). "What is a Developmental Milestone?". Centers for Disease Control and Prevention. Retrieved 2020-10-23.
  7. ↑ "Early Childhood Development". AAP.org. Retrieved 2020-10-23.
  8. ↑ Mithyantha, Renuka; Kneen, Rachel; McCann, Emma; Gladstone, Melissa (2017-11-01). "Current evidence-based recommendations on investigating children with global developmental delay". Archives of Disease in Childhood. 102 (11): 1071–1076. doi:10.1136/archdischild-2016-311271. ISSN   0003-9888. PMC   5738593 . PMID   29054862.
  9. ↑ "Development Delay in Children What It Is, Screening, Treatment". Cleveland Clinic. Retrieved 2018-11-25.
  10. ↑ "Developmental Delay – Therapies For Kids". therapiesforkids.com.au. Retrieved 2018-11-25.
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