Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features. There are three types of Down syndrome, all with the same features: Trisomy 21, the most common type; Mosaic Down syndrome, and Translocation Down syndrome.
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:
Easterseals is an American 501(c)(3) nonprofit providing disability services, with additional support areas serving veterans and military families, seniors, and caregivers.
Special education is the practice of educating students in a way that accommodates their individual differences, disabilities, and special needs. This involves the individually planned and systematically monitored arrangement of teaching procedures, adapted equipment and materials, and accessible settings. These interventions are designed to help individuals with special needs achieve a higher level of personal self-sufficiency and success in school and in their community, which may not be available if the student were only given access to a typical classroom education.
Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.
Miller–Dieker syndrome, Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized by congenital malformations. Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body including the brain, hearts, lungs, liver, bones, or intestinal tract. MDS is a contiguous gene syndrome – a disorder due to the deletion of multiple gene loci adjacent to one another. The disorder arises from the deletion of part of the small arm of chromosome 17p, leading to partial monosomy. There may be unbalanced translocations, or the presence of a ring chromosome 17.
Fetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person who is exposed to alcohol as a result of their mother drinking during pregnancy. Symptoms can include an abnormal appearance, short height, low body weight, small head size, poor coordination, behavioral problems, learning difficulties, and problems with hearing and sight. Those affected are more likely to have trouble with school, the legal system, alcohol, other drugs, and other areas of high risk. The several forms of the condition are: fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (pFAS), alcohol-related birth defects (ARBD), static encephalopathy, alcohol-related neurodevelopmental disorder (ARND) and neurobehavioral disorder associated with prenatal alcohol exposure (ND-PAE). As of 2016, the Swedish Agency for Health Technology Assessment and Assessment of Social Services accepted only FAS as a diagnosis, seeing the evidence as inconclusive with respect to other types.
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.
In clinical diagnostic and functional development, special needs refers to individuals who require assistance for disabilities that may be medical, mental, or psychological. Guidelines for clinical diagnosis are given in both the Diagnostic and Statistical Manual of Mental Disorders and the International Classification of Diseases 9th edition. Special needs can range from people with autism, cerebral palsy, Down syndrome, dyslexia, dyscalculia, dyspraxia, dysgraphia, blindness, deafness, ADHD, and cystic fibrosis. They can also include cleft lips and missing limbs. The types of special needs vary in severity, and a student with a special need is classified as being a severe case when the student's IQ is between 20 and 35. These students typically need assistance in school, and have different services provided for them to succeed in a different setting.
The American Association on Intellectual and Developmental Disabilities (AAIDD) is an American non-profit organization focusing on intellectual disability and related developmental disabilities. AAIDD has members in the United States and more than 50 other countries.
The genetics and abortion issue is an extension of the abortion debate and the disability rights movement. Since the advent of forms of prenatal diagnosis, such as amniocentesis and ultrasound, it has become possible to detect the presence of congenital disorders in the fetus before birth. Specifically, disability-selective abortion is the abortion of fetuses that are found to have non-fatal mental or physical defects detected through prenatal testing. Many prenatal tests are now considered routine, such as testing for Down syndrome. Women who are discovered to be carrying fetuses with disabilities are often faced with the decision of whether to abort or to prepare to parent a child with disabilities.
Learning disability, learning disorder, or learning difficulty is a condition in the brain that causes difficulties comprehending or processing information and can be caused by several different factors. Given the "difficulty learning in a typical manner", this does not exclude the ability to learn in a different manner. Therefore, some people can be more accurately described as having a "learning difference", thus avoiding any misconception of being disabled with a possible lack of an ability to learn and possible negative stereotyping. In the United Kingdom, the term "learning disability" generally refers to an intellectual disability, while conditions such as dyslexia and dyspraxia are usually referred to as "learning difficulties".
Family resource programs (FRP) are Canadian community-based organizations that intend to support families in a variety of ways through systems such as family resource centers, family places, family centers, and neighborhood houses. They can also be linked to schools, community centers, child care programs, women's centers, and native friendship centers. This includes programs such as Ontario Early Years and military-funded family centers. They are generally grassroots organizations that aim to be responsive to local issues.
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.
Kathryn "Kay" McGee was an American activist, recognized for founding two of the first organizations for the benefit of those with Down Syndrome. She worked seeking recognition, rights and opportunities for people with Down Syndrome.
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
The Focus Foundation, located in Davidsonville, Maryland, is a research foundation dedicated to identifying and assisting families and children who have X and Y Chromosomal Variations, dyslexia and/or developmental coordination disorder. These conditions can lead to language-based disabilities, motor planning deficits, reading dysfunction, and attention and behavioral disorders. The Focus Foundation believes that, through increased awareness, early identification, and specific and targeted treatment, children with these conditions can reach their full potential.
A termination for medical reasons (TFMR) is an induced abortion motivated by medical indications involving the fetus or mother. In most countries, health risks are the only basis for obtaining a legal abortion. Prenatal screening can allow early diagnosis, and abortion if desired or necessary. Some medical organizations advocate the offer of diagnostic testing by chorionic villi sampling, and amniocentesis to all pregnant women, as a matter of course.
Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
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