Fragile X syndrome

Fragile X syndrome

Defenition: A genetic disorder which can cause cognitive impairment and a number of other physical and behavioural characteristics. Some of these behaviours, such as poor eye contact, hand flapping, and poor social skills, also occur in children with autism. While most children with Fragile X Syndrome do not have all the characteristics of autism, about 15% to 33% are diagnosed as autistic. Individuals can be tested for "Fragile X" by having a blood test and having their chromosomes examined by a geneticist.

Presentation by: Michael Garrett Logan

What is Fragile X Syndrome?

* According to the National Fragile X foundation, “fragile X syndrome is the most common cause of mental impairment”
* Impairments range from learning disabilities to severe cognitive disabilities to intellectual disabilities.
* Fragile X is the most common known cause of autism and autism like behaviors.

http://www.fragilex.org

What causes Fragile X Syndrome
* Fragile X syndrome is a genetic disorder passed from parent to offspring through DNA.
* It is caused by mutation of the FMR1 gene (Fragile X mental retardation 1) on the X chromosome.
* This mutation is the result of a trinucleotide repeat disorder.
* A section of the FMR1 DNA usually repeats a sequence known as CGG (cytosine, guanine & guanine) 30-55 times. For someone with Fragile X syndrome, this section repeats itself 200-800 times.
* This causes the FMR1 gene not to produce the FMRP (Fragile X mental retardation protein).
* Mutation of this gene can vary between premature mutation and full mutation.

Other disorders associated with this gene mutation:
* fragile x associated tremor/ataxia
* fragile x associated POF (premature ovarian failure)

Demographics
Characteristics

* Fragile X Syndrome (FXS) affects people in a variety of ways. In some carriers these characteristics are hardly noticeable, while in others these characteristics are extremely evident.
* FXS can affect physical appearance, cognitive abilities, behavior, sensory capabilities; and speech and language.

Physical Characteristics
* Distinctive facial features.
* Connective tissue problems
* Macroorchidism (enlarging of the testicles)


Cognitive Development in Males
Cognitive Development in Girls
Behavioral Characteristics
Positive: sweet, loving, desire for social interaction
Behavioral difficulties: ADHD symptoms, hand flapping, chewing/biting (skin, clothes), sensory defensiveness, anxiety, coprolalia (repetitive bursts of swearing), autistic related behaviors, psychosis, schizophrenia, tics
Sensory Processing Problems
* Many behavioral problems are associated with sensory processing disorders common in FXS patients
* Sensitive to light, sound and touch.
* High difficulty maintaining eye contact

Speech and language difficulties
Impact on The Individual
Daily Impact
* Daily living skills are a challenge for FXS patients and their families.
* Sleep: infants struggle to go to sleep, bedding is irritating, children and adults awaken in the middle of the night and wander
* Eating: Breast feeding for infants is difficult, children over fill their mouths when eating, they have trouble chewing and are extremely picky about what they eat.
* Dressing: Parents or caregivers must pay attention to what fabrics FXS patients wear. They may need extra assistance at young ages due to low muscle tone.
* Hygiene: bathing, shaving and brushing teeth are difficult due to hyper stimulation.
* Toilet training: difficult due to developmental delays.

Diagnoses
Treatments
* There is no cure for FXS
* Treatments include: specialized education, speech & occupational therapy, sensory integration training, behavior modification and possible corrective heart surgery, ADHD medications and folic acid.
* Genetic Counseling

Educational Interventions

Fragile X syndrome.ppt

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PubMed Search Engines Resource Guide

PubMed Search Engines Resource Guide

This information is provided by Margaret Henderson, Librarian VCU Libraries

There is more than one way to search the medical literature (PubMed) stored at the National Library of Medicine. Entrez is the search engine created by NLM to search PubMed, but just like there are multiple search engines to search the Internet (Google, Netscape, etc.) there are multiple engines that can be used to search PubMed. As different groups and people have needed different things from the literature, they have created front-ends or 3rd party tools to search the medical literature. Some of these PubMed interfaces are useful if your specific needs correspond to those of the search tool.

Full details here

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Pharmacology Basics

Pharmacology Basics

First rule of thumb:
NEVER EVER ADMINISTER A DRUG YOU ARE UNFAMILIAR WITH
* Ancient vs. Modern Pharmacology
o Pharmekos-study of medicine/drug
o Ology-study
* Studies effects of drugs/how they exert their effects

Therapeutic Purposes of Medications
* Prevent disease
* Diagnose disease
* Cure disease
* Relief of symptoms

Drugs
* A drug may be defined as:
o Any substance taken by mouth; injected into a muscle, blood vessel, or cavity of the body; inhaled, or applied topically to treat or prevent a disease or condition.
* Drug- any substance that alters physiologic function w/potential for affecting health
* Drug interaction
* Adverse drug reaction-undesirable drug effect

Sources of Drugs
* Plants
* Animals
* Minerals or mineral products
* Synthetic chemical compounds
* Biotechnology

Drug Nomenclature
Drug Classification Indicates
Forms or Preparations of Drugs
* Liquid (solution, elixir, emulsion, spirit, syrup, suspension)
* Solid (tablet, capsule, powder, granules)
* Suppository (rectal, vaginal)
* Creams or lotions
* Aerosol
Sources of Drug Information
* Pharmacology textbook
* Pharmacists
* Internet sources
* Journal articles
* Drug reference books

Drug Standards Ensure
* Strength or potency
* Purity
* Efficacy
* Safety
* Bio-availability

Federal Drug Laws in the USA
Categories of Controlled Substances
* Schedule I - not approved for medical use and have high abuse potential
* Schedule II - used medically and have high abuse potential
* Schedule III - less potential for abuse but may lead to physical or psychological dependence
* Schedule IV - some potential for abuse
* Schedule V - contain mod. amounts of controlled substances, limited abuse potential

Scope of Management
Medication Assessment
Name of Medication
Include Generic & Brand Name Classification
Ordered Dose & Route
Is Dose Safe?
Standards of Practice
* Information for Administering Medications
o Generic Name/Trade Name/Classification
o Clinical Uses/Safe Dosage
o Mechanism of Action
o Side Effects/Adverse Effects
o Contraindications/Precautions
o Significant Drug Interactions
o Monitoring Needs/Client Teaching
o Evaluation of Effectiveness

N.C. Nursing Practice Act
Routes of Administration
Three Phases of Action
Pharmaceutics
Pharmacokinetics
Factors Which Influence Drug Absorption
Factors Which Influence Drug Distribution
Protein Bound Drugs
Highly protein bound drugs
First Pass Effect
Serum Half-Life
Pharmacodynamics
Time Intervals of Drug Action
Therapeutic Index
Drug interactions:
Drug Effects
Non-therapeutic Drug Use
Common or Serious Side Effects
Drug Related Variables Affecting Drug Actions
Client Variables Affecting Drug Actions
Nursing Process
Assessment
Planning
Implementation
Evaluation

Pharmacology Basics.ppt

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