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Fragile X-Associated Tremor-Ataxia Syndrome

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281. Mental Retardation (Diagnosis)

suggest a genetic disorder, fetal alcohol syndrome, or hypothyroidism; tall stature may suggest fragile X syndrome (FraX), Soto syndrome, or some other overgrowth syndrome associated with MR/ID Neurologic: This examination should include assessments of head growth (for microcephaly/macrocephaly), muscle tone (for hypotonia or spasticity), strength and coordination, deep tendon reflexes, persistent primitive reflexes, ataxia, and other abnormal movements, such as dystonia or athetosis. Sensory (...) . The three domains of adaptive functioning are conceptual, social, and practical. In addition to severity, the specifier “associated with a known medical or genetic condition or environmental factor” may be given. Examples include genetic disorders, such as fragile X syndrome, tuberous sclerosis, and Rett syndrome; and environmental factors including fetal alcohol exposure (even in the absence of fetal alcohol syndrome). Previous Next: Pathophysiology MR/ID is the end result of many disorders of CNS

2014 eMedicine.com

282. Mental Retardation (Diagnosis)

beta-blockers or agitation associated with akathisia from a neuroleptic drug. For related information, see Medscape's Resource Center. Anxiety disorders Verbal persons with mild ID can report on subjective feelings of . In nonverbal persons, symptoms such as avoidance behaviors and agitation might suggest the diagnosis. The tendency toward anxiety and social avoidance also is a part of the behavioral phenotype of fragile X syndrome. For related information, see Medscape's Resource Center (...) , and macroorchidism. Most have moderate mental retardation, but retardation is more severe in others. Male carriers do not have mental retardation. Females with fragile X syndrome who have the full mutation and are symptomatic usually have learning disabilities or mild mental retardation. Behavioral symptoms have been described in these individuals, ie, hyperactivity and social withdrawal in approximately 50% and depression in approximately 25%. Maternal infections Viral infections in the mother can interfere

2014 eMedicine.com

283. Geriatric Rehabilitation (Diagnosis)

admission. A cost reduction was also realized compared with general medical care. [ ] Lifestyle factors such as not smoking and engaging in physical activity are associated with longer survival, even after age 75. [ ] For patient education resources, see the and . Also, see , , , , and . Also see , , and . Next: Auditory and Visual Impairments Overview One of the greatest challenges in the geriatric population is their ability to communicate their problems, needs, and desires in a medical setting (...) can be surgically treated with bone removal or , respectively. However, gradual decline in hearing acuity, or presbycusis, is due to degeneration of the organ of Corti, and it can simply be a result of aging. Most people acquire a conductive hearing loss with a narrow range of audibility, an inability to hear high-frequency sound, and difficulty in discriminating complex sounds. Hearing deficits are associated with paranoia, and they can also lead to depression, anxiety, and insecurity. Safety

2014 eMedicine.com

284. Cancer and Rehabilitation (Diagnosis)

patients how to use prosthetic devices after amputation, as well as instructing the patient on use of other devices and procedures that assist in self-management, self-care abilities, and independent functioning. Other supportive efforts include provision of emotional support associated with adjustment issues while the patient is learning to cope with physical lifestyle changes. Palliative interventions During the palliative phase, when increasing disability and advanced disease process may be present (...) encounter in rehabilitation programs. [ ] They screened 805 patients with cancer, as well as psychological and physical problems. A variety of cancers, including leukemia and cancers of the head and neck, breast, respiratory, nervous system, bladder, and bone, had been diagnosed. More than 50% of patients had problems associated with physical medicine, with a substantial portion having problems similar to those of other patients undergoing rehabilitation. Much of the population had evidence

2014 eMedicine.com

285. Assistive Devices to Improve Independence (Diagnosis)

an emergency hospital admission. A cost reduction was also realized compared with general medical care. [ ] Lifestyle factors such as not smoking and engaging in physical activity are associated with longer survival, even after age 75. [ ] For patient education resources, see the and . Also, see , , , , and . Also see , , and . Next: Auditory and Visual Impairments Overview One of the greatest challenges in the geriatric population is their ability to communicate their problems, needs, and desires (...) -related cochlear damage can be surgically treated with bone removal or , respectively. However, gradual decline in hearing acuity, or presbycusis, is due to degeneration of the organ of Corti, and it can simply be a result of aging. Most people acquire a conductive hearing loss with a narrow range of audibility, an inability to hear high-frequency sound, and difficulty in discriminating complex sounds. Hearing deficits are associated with paranoia, and they can also lead to depression, anxiety

2014 eMedicine.com

286. Epilepsy in Children with Mental Retardation (Diagnosis)

[ , ] Height: Short stature may suggest a genetic disorder, fetal alcohol syndrome, or hypothyroidism; tall stature may suggest fragile X syndrome (FraX), Soto syndrome, or some other overgrowth syndrome associated with MR/ID Neurologic: This examination should include assessments of head growth (for microcephaly/macrocephaly), muscle tone (for hypotonia or spasticity), strength and coordination, deep tendon reflexes, persistent primitive reflexes, ataxia, and other abnormal movements, such as dystonia (...) that determines the level of support required. The three domains of adaptive functioning are conceptual, social, and practical. In addition to severity, the specifier “associated with a known medical or genetic condition or environmental factor” may be given. Examples include genetic disorders, such as fragile X syndrome, tuberous sclerosis, and Rett syndrome; and environmental factors including fetal alcohol exposure (even in the absence of fetal alcohol syndrome). Previous Next: Pathophysiology MR/ID

2014 eMedicine.com

287. Epilepsy in Adults with Mental Retardation (Diagnosis)

[ , ] Height: Short stature may suggest a genetic disorder, fetal alcohol syndrome, or hypothyroidism; tall stature may suggest fragile X syndrome (FraX), Soto syndrome, or some other overgrowth syndrome associated with MR/ID Neurologic: This examination should include assessments of head growth (for microcephaly/macrocephaly), muscle tone (for hypotonia or spasticity), strength and coordination, deep tendon reflexes, persistent primitive reflexes, ataxia, and other abnormal movements, such as dystonia (...) that determines the level of support required. The three domains of adaptive functioning are conceptual, social, and practical. In addition to severity, the specifier “associated with a known medical or genetic condition or environmental factor” may be given. Examples include genetic disorders, such as fragile X syndrome, tuberous sclerosis, and Rett syndrome; and environmental factors including fetal alcohol exposure (even in the absence of fetal alcohol syndrome). Previous Next: Pathophysiology MR/ID

2014 eMedicine.com

288. Spontaneous Primary Ovarian Insufficiency and Premature Ovarian Failure (Treatment)

, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet . 2004 May. 74(5):1051-6. . Hoek A, Schoemaker J, Drexhage HA. Premature ovarian failure and ovarian autoimmunity. Endocr Rev . 1997 Feb. 18(1):107-34. . Johnson J, Canning J, Kaneko T, Pru JK, Tilly JL. Germline stem cells and follicular renewal in the postnatal mammalian ovary. Nature . 2004 Mar 11. 428(6979):145-50. . Kalantaridou SN, Braddock DT, Patronas NJ, Nelson LM. Treatment (...) -9. . Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med Genet . 2000 Summer. 97(2):153-63. . Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M

2014 eMedicine.com

289. Cancer and Rehabilitation (Treatment)

patients how to use prosthetic devices after amputation, as well as instructing the patient on use of other devices and procedures that assist in self-management, self-care abilities, and independent functioning. Other supportive efforts include provision of emotional support associated with adjustment issues while the patient is learning to cope with physical lifestyle changes. Palliative interventions During the palliative phase, when increasing disability and advanced disease process may be present (...) encounter in rehabilitation programs. [ ] They screened 805 patients with cancer, as well as psychological and physical problems. A variety of cancers, including leukemia and cancers of the head and neck, breast, respiratory, nervous system, bladder, and bone, had been diagnosed. More than 50% of patients had problems associated with physical medicine, with a substantial portion having problems similar to those of other patients undergoing rehabilitation. Much of the population had evidence

2014 eMedicine.com

290. Pyruvate Carboxylase Deficiency (Treatment)

of Medicine at Phoenix; Chief of Neurodevelopmental Disorders, Director of Autism and Down Syndrome and Fragile X Programs, Barrow Neurological Institute at Phoenix Children's Hospital Richard E Frye, MD, PhD is a member of the following medical societies: , , Disclosure: Nothing to disclose. Coauthor(s) Paul J Benke, MD, PhD Director of Clinical Genetics, Joe DiMaggio Children's Hospital Paul J Benke, MD, PhD is a member of the following medical societies: Disclosure: Nothing to disclose. Chief Editor (...) is consistent with neurologic disease or severe . Dermatologic - Skin may be mottled Previous Next: Physical Examination Physical examination findings in pyruvate carboxylase (PC) deficiency are neurologic, respiratory, and abdominal. Hypotonia, ataxia, tremors, and choreoathetosis are consistent with PC deficiency. Progressive motor pathway degeneration results in positive Babinski sign and spastic diplegia or quadriplegia. Ophthalmologic examination may reveal poor visual tracking, grossly disconjugate

2014 eMedicine.com

291. Ovarian Insufficiency (Treatment)

, et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet . 2004 May. 74(5):1051-6. . Hoek A, Schoemaker J, Drexhage HA. Premature ovarian failure and ovarian autoimmunity. Endocr Rev . 1997 Feb. 18(1):107-34. . Johnson J, Canning J, Kaneko T, Pru JK, Tilly JL. Germline stem cells and follicular renewal in the postnatal mammalian ovary. Nature . 2004 Mar 11. 428(6979):145-50. . Kalantaridou SN, Braddock DT, Patronas NJ, Nelson LM. Treatment (...) -9. . Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med Genet . 2000 Summer. 97(2):153-63. . Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M

2014 eMedicine.com

292. Upper Respiratory Tract Infection (Treatment)

a risk of provoking underlying illness. In a fragile cardiac patient, for example, increased metabolic demands associated with fever may increase the work of the heart. In children with a history of febrile seizures, avoiding high fevers may reduce the risk of seizure. Acetaminophen, rather than aspirin, is recommended for the relief of fever, sore throat, myalgias, facial pain, and other uncomfortable sensations in pediatric patients because aspirin is associated with Reye syndrome. Avoid the use (...) to reduce discomfort due to cough. Avoid aspirin in children with viral illness because aspirin is associated with Reye syndrome. Inhaled cromolyn sodium is used for control of chronic asthma. Data are insufficient to permit evidence-based recommendations regarding the use of inhaled cromolyn sodium to treat URI-related cough in patients without asthma. Fever and discomfort relief Fever may be physiologically helpful in eliminating pathogens from the body. In some individuals, however, fever poses

2014 eMedicine.com

293. Pyridoxine Deficiency (Treatment)

Karnebeek CD, Hartmann H, Jaggumantri S, et al. Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials. Mol Genet Metab . 2012 Nov. 107(3):335-44. . Media Gallery of 0 Tables Contributor Information and Disclosures Author Richard E Frye, MD, PhD Professor of Child Health, University of Arizona College of Medicine at Phoenix; Chief of Neurodevelopmental Disorders, Director of Autism and Down Syndrome and Fragile X Programs, Barrow Neurological Institute at Phoenix (...) , Shoemaker JD. Pyridoxine-related metabolite concentrations in normal and Down syndrome amniotic fluid. Fetal Diagn Ther . 2008. 23(4):254-7. . . Balasa VV, Kalinyak KA, Bean JA, Stroop D, Gruppo RA. Hyperhomocysteinemia is associated with low plasma pyridoxine levels in children with sickle cell disease. J Pediatr Hematol Oncol . 2002 Jun-Jul. 24(5):374-9. . Camaschella C. Recent advances in the understanding of inherited sideroblastic anaemia. Br J Haematol . 2008 Oct. 143(1):27-38. . Stockler S

2014 eMedicine.com

294. Pyruvate Carboxylase Deficiency (Overview)

of Medicine at Phoenix; Chief of Neurodevelopmental Disorders, Director of Autism and Down Syndrome and Fragile X Programs, Barrow Neurological Institute at Phoenix Children's Hospital Richard E Frye, MD, PhD is a member of the following medical societies: , , Disclosure: Nothing to disclose. Coauthor(s) Paul J Benke, MD, PhD Director of Clinical Genetics, Joe DiMaggio Children's Hospital Paul J Benke, MD, PhD is a member of the following medical societies: Disclosure: Nothing to disclose. Chief Editor (...) is consistent with neurologic disease or severe . Dermatologic - Skin may be mottled Previous Next: Physical Examination Physical examination findings in pyruvate carboxylase (PC) deficiency are neurologic, respiratory, and abdominal. Hypotonia, ataxia, tremors, and choreoathetosis are consistent with PC deficiency. Progressive motor pathway degeneration results in positive Babinski sign and spastic diplegia or quadriplegia. Ophthalmologic examination may reveal poor visual tracking, grossly disconjugate

2014 eMedicine.com

295. Geriatric Rehabilitation (Overview)

admission. A cost reduction was also realized compared with general medical care. [ ] Lifestyle factors such as not smoking and engaging in physical activity are associated with longer survival, even after age 75. [ ] For patient education resources, see the and . Also, see , , , , and . Also see , , and . Next: Auditory and Visual Impairments Overview One of the greatest challenges in the geriatric population is their ability to communicate their problems, needs, and desires in a medical setting (...) can be surgically treated with bone removal or , respectively. However, gradual decline in hearing acuity, or presbycusis, is due to degeneration of the organ of Corti, and it can simply be a result of aging. Most people acquire a conductive hearing loss with a narrow range of audibility, an inability to hear high-frequency sound, and difficulty in discriminating complex sounds. Hearing deficits are associated with paranoia, and they can also lead to depression, anxiety, and insecurity. Safety

2014 eMedicine.com

296. Spontaneous Primary Ovarian Insufficiency and Premature Ovarian Failure (Overview)

, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, et al. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod . 2015 Nov 3. . Bardoni B, Mandel JL, Fisch GS. FMR1 gene and fragile X syndrome. Am J Med Genet . 2000 Summer. 97(2):153-63. . Murray A, Schoemaker MJ, Bennett CE, Ennis S, Macpherson JN, Jones M, et al. Population-based (...) . Autoimmune endocrinopathies in female reproductive dysfunction. Volpe R, ed. Contemporary Endocrinology: Autoimmune Endocrinopathies . Totowa , NJ: Humana Press; 1999. 365-91. Gordon CM, Nelson LM. Amenorrhea and bone health in adolescents and young women. Curr Opin Obstet Gynecol . 2003 Oct. 15(5):377-84. . Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev . 2002 Jun. 12(3):278-83. . Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-X-associated tremor

2014 eMedicine.com

297. Movement Disorders in Individuals with Developmental Disabilities (Overview)

diagnosed with autism [ , ] Height: Short stature may suggest a genetic disorder, fetal alcohol syndrome, or hypothyroidism; tall stature may suggest fragile X syndrome (FraX), Soto syndrome, or some other overgrowth syndrome associated with MR/ID Neurologic: This examination should include assessments of head growth (for microcephaly/macrocephaly), muscle tone (for hypotonia or spasticity), strength and coordination, deep tendon reflexes, persistent primitive reflexes, ataxia, and other abnormal (...) that determines the level of support required. The three domains of adaptive functioning are conceptual, social, and practical. In addition to severity, the specifier “associated with a known medical or genetic condition or environmental factor” may be given. Examples include genetic disorders, such as fragile X syndrome, tuberous sclerosis, and Rett syndrome; and environmental factors including fetal alcohol exposure (even in the absence of fetal alcohol syndrome). Previous Next: Pathophysiology MR/ID

2014 eMedicine.com

298. Mental Retardation (Overview)

suggest a genetic disorder, fetal alcohol syndrome, or hypothyroidism; tall stature may suggest fragile X syndrome (FraX), Soto syndrome, or some other overgrowth syndrome associated with MR/ID Neurologic: This examination should include assessments of head growth (for microcephaly/macrocephaly), muscle tone (for hypotonia or spasticity), strength and coordination, deep tendon reflexes, persistent primitive reflexes, ataxia, and other abnormal movements, such as dystonia or athetosis. Sensory (...) . The three domains of adaptive functioning are conceptual, social, and practical. In addition to severity, the specifier “associated with a known medical or genetic condition or environmental factor” may be given. Examples include genetic disorders, such as fragile X syndrome, tuberous sclerosis, and Rett syndrome; and environmental factors including fetal alcohol exposure (even in the absence of fetal alcohol syndrome). Previous Next: Pathophysiology MR/ID is the end result of many disorders of CNS

2014 eMedicine.com

299. Mental Retardation (Overview)

or agitation associated with akathisia from a neuroleptic drug. For related information, see Medscape's Resource Center. Anxiety disorders Verbal persons with mild ID can report on subjective feelings of . In nonverbal persons, symptoms such as avoidance behaviors and agitation might suggest the diagnosis. The tendency toward anxiety and social avoidance also is a part of the behavioral phenotype of fragile X syndrome. For related information, see Medscape's Resource Center. Posttraumatic stress disorder (...) retardation, but retardation is more severe in others. Male carriers do not have mental retardation. Females with fragile X syndrome who have the full mutation and are symptomatic usually have learning disabilities or mild mental retardation. Behavioral symptoms have been described in these individuals, ie, hyperactivity and social withdrawal in approximately 50% and depression in approximately 25%. Maternal infections Viral infections in the mother can interfere with organogenesis, and the earlier

2014 eMedicine.com

300. Hyperammonemia (Overview)

syndrome, several other metabolic disorders, and some toxic encephalopathies. [ ] Signs and symptoms Signs and symptoms of early-onset hyperammonemia (neonates) may include the following: Lethargy Irritability Poor feeding Vomiting Hyperventilation, grunting respiration Seizures Signs and symptoms of late-onset hyperammonemia (later in life) may include the following: Intermittent ataxia Intellectual impairment Failure to thrive Gait abnormality Behavior disturbances Epilepsy Recurrent Reye syndrome (...) Protein avoidance Rarely, episodic headaches and cyclic vomiting See for more detail. Diagnosis No specific physical findings are associated with hyperammonemia. Affected infants usually present with the following: Dehydration Lethargy Tachypnea Hypotonia Bulging fontanelle Examination occasionally reveals a peculiar finding, such as odor of "sweaty feet" in isovaleric acidemia or abnormally fragile hair in argininosuccinic aciduria. Infants with argininosuccinic lyase deficiency may present

2014 eMedicine.com

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