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Prader–Willi Syndrome
Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and behavioral problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, and light skin and hair. Most are unable to have children. About 74% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases, the affected person has two copies of the maternal chromosome 15 from the mother and lacks the paternal copy. As parts of the chromosome from the mother are turned off through imprinting, they end up with no working copies of certain genes. PWS is not generally inherited, but rather the genetic changes happen during the format ...
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Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), 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 na ...
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Group Homes
A group home, congregate living facility, or care home (the latter especially in British English and Australian English) is a residence model of medical care for those with complex health needs. Traditionally, the model has been used for children or young people who cannot live with their families or afford their own homes, people with chronic disabilities who may be adults or seniors, or people with dementia and related aged illnesses. Typically, there are no more than six residents, and there is at least one trained caregiver there 24 hours a day. In some early "model programs", a house manager, night manager, weekend activity coordinator, and four part-time skill teachers were reported. Originally, the term group home referred to homes of 8 to 16 individuals, which was a state-mandated size during deinstitutionalization. Residential nursing facilities, also included in this article, may be as large in 2015 as 100 individuals, which is no longer the case in fields such as intellec ...
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Scoliosis
Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. The cause of most cases is unknown, but it is believed to involve a combination of genetic and environmental factors. Risk factors include other affected family members. It can also occur due to another condition such as muscle spasms, cerebral palsy, Marfan syndrome, and tumors such as neurofibromatosis. Diagnosis is confirmed with X-rays. Scoliosis is typically classified as either structural in which the curve is fixed, or functional in which the underlying spine is normal. Treatment depends on the degree of curve, location, and cause. Minor curves may simply be watched periodically. Treatme ...
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Strabismus
Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is focused on an object can alternate. The condition may be present occasionally or constantly. If present during a large part of childhood, it may result in amblyopia, or lazy eyes, and loss of depth perception. If onset is during adulthood, it is more likely to result in double vision. Strabismus can occur due to muscle dysfunction, farsightedness, problems in the brain, trauma or infections. Risk factors include premature birth, cerebral palsy and a family history of the condition. Types include esotropia, where the eyes are crossed ("cross eyed"); exotropia, where the eyes diverge ("lazy eyed" or "wall eyed"); and hypertropia or hypotropia where they are vertically misaligned. They can also be classified by whether the problem is present in all directions a person looks (comitant) or varies by direction (incomitant). Diagnosis may be made by obser ...
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Hypersomnia
Hypersomnia is a neurological disorder of excessive time spent sleeping or excessive sleepiness. It can have many possible causes (such as seasonal affective disorder) and can cause distress and problems with functioning. In the fifth edition of the ''Diagnostic and Statistical Manual of Mental Disorders'' (DSM-5), hypersomnolence, of which there are several subtypes, appears under sleep-wake disorders. Hypersomnia is a pathological state characterized by a lack of alertness during the waking episodes of the day.American Academy of Sleep Medicine. The international classification of sleep disorders: diagnostic & coding manual (2nd ed). Westchester, IL: American Academy of Sleep Medicine, 2005. It is not to be confused with fatigue, which is a normal physiological state. Daytime sleepiness appears most commonly during situations where little interaction is needed. Since the patients’ attention levels (wakefulness) are impaired, their quality of life may be impacted as well.M ...
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Hypogonadism
Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries—that may result in diminished production of sex hormones. Low androgen (e.g., testosterone) levels are referred to as hypoandrogenism and low estrogen (e.g., estradiol) as hypoestrogenism. These are responsible for the observed signs and symptoms in both males and females. Hypogonadism, commonly referred to by the symptom "low testosterone" or "Low T", can also decrease other hormones secreted by the gonads including progesterone, DHEA, anti-Müllerian hormone, activin, and inhibin. Sperm development (spermatogenesis) and release of the egg from the ovaries (ovulation) may be impaired by hypogonadism, which, depending on the degree of severity, may result in partial or complete infertility. In January 2020, the American College of Physicians issued clinical guidelines for testosterone treatment in adult men with age-related low levels of testosterone. The guidelines are supported b ...
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Sucking Reflex
Primitive reflexes are reflex actions originating in the central nervous system that are exhibited by normal infants, but not neurologically intact adults, in response to particular stimuli. These reflexes are suppressed by the development of the frontal lobes as a child transitions normally into child development. These primitive reflexes are also called infantile, infant or newborn reflexes. Older children and adults with atypical neurology (e.g., people with cerebral palsy) may retain these reflexes and primitive reflexes may reappear in adults. Reappearance may be attributed to certain neurological conditions including dementia (especially in a rare set of diseases called frontotemporal degenerations), traumatic lesions, and strokes. An individual with cerebral palsy and typical intelligence can learn to suppress these reflexes, but the reflex might resurface under certain conditions (i.e., during extreme startle reaction). Reflexes may also be limited to those areas affected ...
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Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), 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 na ...
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Lethargy
Lethargy is a state of tiredness, sleepiness, weariness, fatigue, sluggishness or lack of energy. It can be accompanied by depression, decreased motivation, or apathy. Lethargy can be a normal response to inadequate sleep, overexertion, overworking, stress, lack of exercise, improper nutrition, boredom, or a symptom of an underlying illness or a disorder. It may also be a side-effect of medication or caused by an interaction between medications or medication(s) and alcohol. It may also be an altered level of consciousness. When part of a normal response, lethargy often resolves with rest, adequate sleep, decreased stress, physical exercise, and good nutrition. Lethargy's symptoms however can last days or even months, so it can be a sign of a recent underlying illness or infection if it doesn't resolve normally. See also * Clinical depression * Encephalitis lethargica * Sleep apnea * Sleep deprivation * Somnolence Somnolence (alternatively sleepiness or drowsiness) is a ...
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Caesarean
Caesarean section, also known as C-section or caesarean delivery, is the surgical procedure by which one or more babies are delivered through an incision in the mother's abdomen, often performed because vaginal delivery would put the baby or mother at risk. Reasons for the operation include obstructed labor, twin pregnancy, high blood pressure in the mother, breech birth, and problems with the placenta or umbilical cord. A caesarean delivery may be performed based upon the shape of the mother's pelvis or history of a previous C-section. A trial of vaginal birth after C-section may be possible. The World Health Organization recommends that caesarean section be performed only when medically necessary. Most C-sections are performed without a medical reason, upon request by someone, usually the mother. A C-section typically takes 45 minutes to an hour. It may be done with a spinal block, where the woman is awake, or under general anesthesia. A urinary catheter is used to drain t ...
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Breech Birth
A breech birth is when a baby is born bottom first instead of head first, as is normal. Around 3–5% of pregnant women at term (37–40 weeks pregnant) have a breech baby. Due to their higher than average rate of possible complications for the baby, breech births are generally considered higher risk. Breech births also occur in many other mammals such as dogs and horses, see veterinary obstetrics. Most babies in the breech position are delivered via caesarean section because it is seen as safer than being born vaginally. Doctors and midwives in the developing world often lack many of the skills required to safely assist women giving birth to a breech baby vaginally. Also, delivering all breech babies by caesarean section in developing countries is difficult to implement as there are not always resources available to provide this service. OB-GYNs do not recommend home births if a breech birth is expected, even when attended by a medical professional. Cause With regard to the ...
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Polyhydramnios
Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in about 1% of pregnancies. It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. There are two clinical varieties of polyhydramnios: chronic polyhydramnios where excess amniotic fluid accumulates gradually, and acute polyhydramnios where excess amniotic fluid collects rapidly. The opposite to polyhydramnios is oligohydramnios, not enough amniotic fluid. Presentation Associated conditions Fetuses with polyhydramnios are at risk for a number of other problems including cord prolapse, placental abruption, premature birth and perinatal death. At delivery the baby should be checked for congenital abnormalities. Causes In most cases, the exact cause cannot be identified. A single case may have one or more causes, including intrauterine infection (TORCH), rh-isoimmunisation, or chorioangioma of the placenta. In a multiple gestation pregna ...
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