Hunter’s Syndrome and Its Management in a Public School Setting

1992 ◽  
Vol 23 (2) ◽  
pp. 102-106
Author(s):  
Carol Sober Alpern
Keyword(s):  
Public School ◽  
Genetic Disorder ◽  
School Setting ◽  
Upper Airway ◽  
The Body ◽  
Team Approach ◽  
Delay In Diagnosis ◽  
Skeletal Changes ◽  
Hunter's Syndrome

Hunter’s syndrome is a progressive, degenerative, genetic disorder that results from faulty functioning of the enzymes responsible for breaking down mucopolysaccharides, the complex carbohydrates found in connective tissue. When incompletely degraded mucopolysaccharides accumulate throughout the body, numerous muscular and skeletal changes occur. Typically, hearing loss and eventual upper airway obstruction result in a degeneration of speech and language functioning. Presented here is a case study of a child with the mild form of Hunter’s syndrome. This study demonstrates the typical delay in diagnosis and shows how a team approach can maintain such a child in a regular public school setting.

scholarly journals AN AYURVEDIC MANAGEMENT OF SPINAL MUSCULAR ATROPHY (SMA) – A CASE STUDY

2021 ◽  
Vol 9 (11) ◽  
pp. 2897-2902
Author(s):  
Raheena B ◽  
Shaila Borannavar ◽  
Ananta S Desai
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Erect Posture ◽  
Smn1 Gene ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in the autosomal recessive pattern due to the absence of the SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, this condition can be considered as Kulaja Vyadhi wherein the patient’s Mamsa and Snayu is affected by Vata. This can be regarded as Mamsa-Snayugata Sarvanga Vata. It is said that Prakruta Vata dosha is the life, it is the strength, it is the sustainer of the body, it holds the body and life together. If it is Vikruta it produces Sankocha, Khanja, Kubjatva, Pangutva, Khalli and Soshana of Anga. So, in this disease aggravated Vata does the vitiation of Mamsa and Snayu thus leading to Soshana of both, resulting in Stambha, Nischalikarana of Avayava. A 21years female patient was admitted to our I.P.D with c/o of reduced strength in all four limbs leading to the inability to walk and to maintain erect posture during standing and sitting positions. Based on Ayurvedic principles the patient was initially subjected to Avaranahara Chikitsa followed by Brimhana line of management. Keywords: Mamsagata vata, Snayugata vata, Sarvanga vata, Spinal muscular atrophy (SMA)

Teaching Individualized Sexuality Education to a Young Boy With Autism Spectrum Disorder in the Least Restrictive Environment

2020 ◽  
pp. 55-78
Author(s):  
Laura J. Albee
Keyword(s):  
Public School ◽  
Sexuality Education ◽  
Interdisciplinary Collaboration ◽  
School Setting ◽  
Least Restrictive Environment ◽  
Autism Spectrum ◽  
Problematic Behaviors ◽  
Restrictive Environment ◽  
Time Lead

Students on the autism spectrum who exhibit sexually problematic behaviors in a public school setting are often misunderstood, and over time lead restrictive, isolated, and lonely lives removed from their peers. How can we best address sexually problematic behaviors with students on the spectrum, while upholding the lesser restrictive tenets revered by public education? Unfortunately, without fully understanding the significance their anomalous behaviors serve, students on the spectrum are typically fast-tracked to out-of-district placements. The purpose of this chapter is to present a case study that illuminates the complexities of addressing autism, sexuality, and education in a public school setting. This case will provide a summary of the assessment and programmatic design process, using targeted and evidenced-informed interventions specific to autism. Finally, this case will stress the importance of interdisciplinary collaboration, including parent partnership for promoting positive outcomes within the less restrictive environment.

scholarly journals Case Study on Ayurvedic Management of Spinal Muscular Atrophy (SMA)

2018 ◽  
Vol 9 (3) ◽  
pp. 225-230
Author(s):  
Krishna Santoshi M ◽  
Krishnaiah N
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Treatment Modalities ◽  
Smn1 Gene ◽  
Hands And Feet ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in autosomal recessive pattern due to absence of SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, SMA can be considered as a type of janma jaata Vata vikara as it has been mentioned that: “Tatra va gati gandhanayoriti vata” that means all the movements of the body are controlled by vata. In Vata vyadhi Lakshanas, few symptoms like Anganam sosha (Atrophy or emaciation of limbs), Sankocha (Contraction), Kanja, Pangulya, Kubjatva (Lameness of hands and feet, hunch-back and shortness), are considered, few of which are also observed in the Spinal Muscular Atrophy. A 2yrs female patient was admitted in our I.P.D who was a known case of SMA II presented with complaints of inability in sitting for longer time without support, unable to stand and walk even with support. Through Ayurvedic principles we have treated adopting various vata hara treatment modalities & also with few palliative treatments as per the need in view of enhancing the quality living.  

Trisomy 18: A Case Study

2008 ◽  
Vol 27 (1) ◽  
pp. 33-41 ◽  
Author(s):  
Jacquelyn Shaw
Keyword(s):  
Index Finger ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Extra Chromosome ◽  
The Body ◽  
Trisomy 18 ◽  
Feeding Difficulties ◽  
Renal Malformations ◽  
Central Nervous System Defects

Trisomy 18 is a devastating genetic disorder that can be characterized by multiple congenital anomalies. Some of these anomalies have no medical significance, but merely provide clues to suggest the diagnosis. The most common form of trisomy 18 is the nondisjunction type, which affects every cell of the body with an extra chromosome 18. Affected infants are typically born with a prominent occiput, short eye fissures with droopy eyelids, micrognathia, external ear variations, clenched fist with index finger overlapping the third finger and fifth finger overlapping the fourth, small fingernails and toenails, underdeveloped or altered thumbs, “rocker-bottom” feet, and redundant skin at the back of the neck. Congenital heart defects are common. The mortality rate among infants with trisomy 18 is high as a result of cardiac and renal malformations, feeding difficulties, sepsis, and central apnea caused by central nervous system defects. A case study is provided.

Mentoring as a Communication Coach in a Public School Setting

2012 ◽  
Vol 21 (3) ◽  
pp. 115-121
Author(s):  
Catherine George ◽  
Faye Warren
Keyword(s):  
Public School ◽  
Role Models ◽  
School Setting

Abstract People using speech generating devices face many challenges, one of which is the lack of role models. They seldom have the opportunity to meet and interact with other proficient SGD users. This article addresses key considerations for initiating an AAC mentoring position as a Communication Coach in a public school setting. Outcomes and considerations to facilitate the likelihood of success are discussed from both administrative and mentor perspectives.

HIPEREMESIS GRAVIDARUM PADA IBU HAMIL DI KLINIK BIDAN SUPRIYATI SRIBIT BERBAH SLEMAN

2019 ◽  
Vol 14 (1) ◽  
pp. 51
Author(s):  
Pramukti Dian Setianingrum ◽  
Farah Irmania Tsani
Keyword(s):  
Blood Pressure ◽  
Pregnant Women ◽  
Hyperemesis Gravidarum ◽  
Unwanted Pregnancy ◽  
The Body ◽  
Nausea And Vomiting ◽  
Daily Activities ◽  
World Health ◽  
The World

Backgroud: The World Health Organization (WHO) explained that the number of Hyperemesis Gravidarum cases reached 12.5% of the total number of pregnancies in the world and the results of the Demographic Survey conducted in 2007, stated that 26% of women with live births experienced complications. The results of the observations conducted at the Midwife Supriyati Clinic found that pregnant women with hyperemesis gravidarum, with a comparison of 10 pregnant women who examined their contents there were about 4 pregnant women who complained of excessive nausea and vomiting. Objective: to determine the hyperemesis Gravidarum of pregnant mother in clinic. Methods: This study used Qualitative research methods by using a case study approach (Case Study.) Result: The description of excessive nausea of vomiting in women with Hipermemsis Gravidarum is continuous nausea and vomiting more than 10 times in one day, no appetite or vomiting when fed, the body feels weak, blood pressure decreases until the body weight decreases and interferes with daily activities days The factors that influence the occurrence of Hyperemesis Gravidarum are Hormonal, Diet, Unwanted Pregnancy, and psychology, primigravida does not affect the occurrence of Hyperemesis Gravidarum. Conclusion: Mothers who experience Hyperemesis Gravidarum feel nausea vomiting continuously more than 10 times in one day, no appetite or vomiting when fed, the body feels weak, blood pressure decreases until the weight decreases and interferes with daily activities, it is because there are several factors, namely, hormonal actors, diet, unwanted pregnancy, and psychology.

Aspergillus Spondylodiscitis After Spinal Stenosis Surgery: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 155-160
Author(s):  
Mohsen Aghapoor ◽  
◽  
Babak Alijani Alijani ◽  
Mahsa Pakseresht-Mogharab ◽  
◽  
...  
Keyword(s):  
Antifungal Drugs ◽  
The Body ◽  
Lower Limbs ◽  
Lumbar Pain ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Death Case ◽  
Therapeutic Results ◽  
History Of ◽  
Probable Diagnosis

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.

Sign in / Sign up

Export Citation Format

Share Document