Related Experiment Video
Updated: Feb 11, 2026
07:33
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
37.3K
Pediatric Ataxia: Focus on Chronic Disorders
David R Lynch1, Ashley McCormick2, Kimberly Schadt1
1Departments of Pediatrics and Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Seminars in Pediatric Neurology
|May 9, 2018
Summary
Diagnosing pediatric ataxia requires a focused approach. Genetic testing and targeted biochemical assays are crucial for identifying treatable genetic disorders like Friedreich ataxia and vitamin E deficiency.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
- Neurodegenerative Diseases
Background:
- Pediatric ataxia evaluation can be costly and lengthy.
- Chronic ataxia is often linked to genetic disorders, either primary or syndromic.
- Prompt diagnosis is essential for timely treatment and monitoring.
Purpose of the Study:
- To outline an efficient diagnostic strategy for pediatric ataxia.
- To highlight key genetic and biochemical tests for common ataxia causes.
- To emphasize the importance of clinical assessment in guiding diagnosis.
Main Methods:
- Review of diagnostic approaches for pediatric ataxia.
- Identification of key genetic tests (e.g., Friedreich ataxia).
- Discussion of relevant biochemical assays (e.g., vitamin E, alpha fetoprotein).
Main Results:
- Friedreich ataxia is the most prevalent genetic cause, confirmed by genetic testing.
- Testing for vitamin E and alpha fetoprotein is vital for specific deficiencies and Ataxia Telangiectasia.
- Empiric coenzyme Q10 treatment is recommended for potential deficiencies.
Conclusions:
- A systematic evaluation integrating family history, clinical examination, and targeted testing aids efficient diagnosis.
- Early identification of treatable genetic ataxias improves patient outcomes.
- Focusing on genetic and biochemical markers streamlines the diagnostic process.
Related Concept Videos
01:17Chronic Bowel Disorders: Introduction
815
Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
815
02:18Intrinsically Disordered Proteins
19.6K
Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
19.6K
01:26Pharmacokinetics in Pediatric Patients: Drug Excretion
274
In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
274
01:27Coping Strategies: Problem Focused
529
Coping strategies are methods people use to manage, tolerate, or reduce the effects of stressors. These strategies involve both behavioral and psychological actions to handle stressful situations. One common approach is problem-focused coping, which aims to change or eliminate the source of stress rather than merely addressing its consequences. This method involves taking direct action to resolve the issue causing stress.
For example, consider a student who struggles to understand their...
For example, consider a student who struggles to understand their...
529
01:16Focusing of Light in the Eye
6.3K
Light rays enter the eye through the cornea, a transparent dome-shaped tissue that is the eye's outermost layer. The cornea bends or refracts, light rays traveling to the pupil. The shape of the cornea determines how much of the light is bent and whether the image will be focused correctly on the retina at the back of the eye. Once the light has passed through both refraction layers, it converges into a single focal point onto a small area. This is where photoreceptors start transforming...
6.3K
01:17Pharmacokinetics in Pediatric Patients: Drug Distribution
330
Drug distribution in the pediatric population exhibits unique challenges and considerations due to the physiological differences between children, particularly neonates and infants, and adults. A crucial aspect of pediatric pharmacology is understanding how these differences impact the pharmacokinetics of various drugs, necessitating age-specific dosing strategies to ensure efficacy and safety.Neonates and infants have a higher total body water content, ~75%–90% of their body weight,...
330