Presentation
Hence, we present a case of mucopolysaccharidosis type IV, who presented with bilateral corneal clouding and other systemic features of this storage disorder. [jcor.in]
Sections address general anatomic, hormonal, epidemiologic, and drug aspects of women's health; neurologic conditions that arise during childhood, pregnancy, adulthood, and old age in females; and particular neurologic conditions that present differently [books.google.com]
This excellent volume presents the state-of-the-art in research and practice of Cognitive Therapy with couples. [behavioralhealthassoc.com]
Joint hyperextensibility and pectus excavatum might be present. Secondary sexual development and testicular size is normal. There is hypernasality, without velopharyngeal incompetence or palatal clefting. Seizures are present in some patients. [ojrd.biomedcentral.com]
The numbered bands specify the location of the hundreds of genes that are present on each chromosome. [rarediseases.org]
Entire Body System
- Nightmare
"The logistics of enforcing this law are just a nightmare," he said. Not only are lawmakers appropriating a pittance to enforce the law, they are recognizing that strong enforcement can be unpopular with the folks back home. [houstonpress.com]
- Collapse
Mismatch scores collapse at r = 0.27 (p = 1.67E-04), indicating an optimal threshold for the Psychopathology Web and a corresponding six-cluster solution. For details, see text and Tables 1 and 2. [ncbi.nlm.nih.gov]
- Enuresis
Volume of superior temporal gyrus ↓Posterior cerebellar vermis Epileptic seizures (25%) (usually generalised tonic-clonic which respond to carbamazepine - half disappear by age 20) Attention deficit hyperactivity disorder Short attention span Impulsivity Enuresis [intellectualdisability.info]
- Unconsciousness
I knew I shouldn’t be doing it….but I had to….an unconscious need to prove something to myself, or face something in order to overcome it. [theburningplatform.com]
Eyes
- Redness of Eye
It was not associated with photophobia, watering, or redness of eyes. Birth history: second child of consanguineous marriage, full-term, normal birth weight, vaginal hospital delivery. Elder brother was developmentally normal. [jcor.in]
Face, Head & Neck
- Short Neck
On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar spine, pigeon chest, widening of wrist, bowing of legs, doubling of malleoli, [jcor.in]
Neurologic
- Stroke
Perinatal conditions include birth asphyxia, stroke, and infection. Postnatal conditions include infection, toxins (e.g., lead), and injury, such as nonaccidental trauma. [clinicalgate.com]
She had a stroke at age 71 and developed dementia thereafter. She passed away at age 80. She gave birth to 15 children; two were stillborn. Two sons and a daughter died in childhood, they were said to be “handicapped”, one son had spina bifida. [journal.frontiersin.org]
- Cognitive Disorder
Learning disabilities are cognitive disorders that affect different areas of cognition, particularly language or reading. It should be pointed out that learning disabilities are not the same thing as intellectual disabilities. [courses.lumenlearning.com]
Other more complex terms that have been proposed, such as “intellectual developmental disorder”, “neurodevelopmental disorder”, or “developmental cognitive impairment” 7, though certainly more accurate than ID, have not gained in popularity. [f1000research.com]
- Headache
This book provides and excellent discussion about what is known about headaches, summarizes the empirical research on psychological interventions with headaches, and presents a comprehensive approach to managing chronic headaches. [behavioralhealthassoc.com]
Headache may be associated with increased intracranial pressure, which may even lead to coma. Late manifestations include developmental retardation, ataxia, seizures, and personality changes. [emedicine.medscape.com]
- Generalized Seizure
There are two large categories of seizures, namely, generalized seizures and partial seizures. [nap.edu]
- Screaming
When my mother ran out of the kitchen and saw the bloody mess I had become, her screams could be heard from one end of the neighborhood to the other. [theburningplatform.com]
Urogenital
- Kidney Failure
[…] disease, which involves the formation of cysts in the kidneys and brings on high blood pressure and kidney failure (18); and Marfan syndrome, a disorder of connective tissues which manifests itself by tall stature, extra long digits, progressive involvement [www2.loras.edu]
Treatment
The Psychological Treatment of Panic. New York: Guilford. [behavioralhealthassoc.com]
The treatment of emotional and behavioral problems. In: FXS: Diagnosis, treatment, and research, 3rd ed, Hagerman, RJ, Hagerman, PJ (Eds), Johns Hopkins University Press, Baltimore 2002. p.339-362 22. Lachiewicz AM, Dawson DV. [intellectualdisability.info]
[…] in non-hospital settings, see involuntary treatment. [psychology.wikia.org]
This text is divided into eight distinct sections, and includes coverage of the molecular and genetic basis of hemoglobinopathies and thalassemias, their epidemiology and genetic selection, and the diagnosis and special treatments of ^D*b and ^D*a thalassemias [books.google.com]
Overview A diagnosis of intellectual disability (ID) carries with it certain unique treatment needs that must be understood and addressed. [emedicine.medscape.com]
Prognosis
The prognosis for successful keratoplasty is guarded as abnormal storage material may accumulate in the graft. [8] In MPS type IV, progressive neurological manifestation secondary to spinal malformations and resulting medullary compression is mostly responsible [jcor.in]
Prognosis Most reports describe patients at adolescent and young adult age. Special attention should be given to comorbidity and behavioural problems. Unresolved questions Thus far, the genetic defect and the mechanism is unknown. [ojrd.biomedcentral.com]
Common Syndromes Associated with Mental Retardation Diagnosis Incidence Etiology, including inheritance Clinical manifestations and early recognition Associated conditions Diagnostic evaluation* Prognosis Special considerations Down syndrome 1 in 600 [aafp.org]
When it is connected with fetal developmental deviations, the prognosis depends on the infant's general condition. [emedicine.medscape.com]
Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis. Salud Pública México. 2008;50:132-41. [ Links ] 29. Maulik PK, Darmstadt GL. [scielo.org.pe]
Etiology
The etiology of mental retardation is varied. In a large number of cases, the condition is X-linked, but not associated with Fragile X syndrome. These cases are classified as non-specific X linked Mental Retardation (XLMR). [cags.org.ae]
Etiology of mild mental retardation among Bahraini children: a community-based case control study. Ment Retard 1993;31:140-143. 3. Rauch A. [mbrc.shirazu.ac.ir]
Etiology A number of environmental, genetic or multiple factors can cause mental retardation. [aafp.org]
Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband. Birth Defects Orig Artic Ser 1978; 14: 127-37. 8. [jpma.org.pk]
PubMed CrossRef Google Scholar Clark AJ, Rosenberg EH, Almeida LS, et al (2006) X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. [link.springer.com]
Epidemiology
This text is divided into eight distinct sections, and includes coverage of the molecular and genetic basis of hemoglobinopathies and thalassemias, their epidemiology and genetic selection, and the diagnosis and special treatments of ^D*b and ^D*a thalassemias [books.google.com]
Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. Am J Ment Retard 1987:92:243-254. 5. [mbrc.shirazu.ac.ir]
Epidemiology The prevalence in the general population is not known. The Lujan-Fryns syndrome affects predominantly males. [ojrd.biomedcentral.com]
Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A. 2014;164A(7):1648-58. DOI: https://doi.org/10.1002/ajmg.a.36511 [ Links ] 13. [scielo.org.co]
Pathophysiology
It stands as the definitive work on the genetics, pathophysiology, and clinical management of this wide range of disorders. Drs. [books.google.com]
A delicate balance: role of MMP-9 in brain development and pathophysiology of neurodevelopmental disorders. Front Cell Neurosci. 2015;9:280. DOI: https://doi.org/10.3389/fn-cel.2015.00280 [ Links ] 49. [scielo.org.co]
: Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006; 14 (6): 701–713. PubMed Abstract | Publisher Full Text 10. Raymond FL, Tarpey P: The genetics of mental retardation. Hum Mol Genet. 2006; 15 (Spec No 2): R110–6. [f1000research.com]
Price JL, Drevets WC (2012) Neural circuits underlying the pathophysiology of mood disorders. Trends Cogn Sci 16 :61–71. [ PubMed ] [ Google Scholar ] 72. [ncbi.nlm.nih.gov]
Prevention
Prevention,” after “Administrator of the Office of Juvenile Justice and Delinquency Prevention,”. [govinfo.gov]
These works provide valuable suggestions about preventing relapse with a broad range of problems: Marlatt, G. A. & Gordon, J. R. (2005). Relapse Prevention, 2nd edition. New York: Guilford. [behavioralhealthassoc.com]
[…] needed gender-specific services for the prevention and treatment of juvenile delinquency;”. [law.cornell.edu]
Increasingly, a lifelong low-phenylalanine diet is recommended to prevent later deterioration in cognitive functions. [emedicine.medscape.com]
An accident state legislators promised to prevent. E-mail Stuart Eskenazi at [email protected] . [houstonpress.com]