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Related Concept Videos

Longitudinal Research02:20

Longitudinal Research

Sometimes we want to see how people change over time, as in studies of human development and lifespan. When we test the same group of individuals repeatedly over an extended period of time, we are conducting longitudinal research. Longitudinal research is a research design in which data-gathering is administered repeatedly over an extended period of time. For example, we may survey a group of individuals about their dietary habits at age 20, retest them a decade later at age 30, and then again...
Pollination and Flower Structure02:40

Pollination and Flower Structure

Flowers are the reproductive, seed-producing structures of angiosperms. Typically, flowers consist of sepals, petals, stamens, and carpels. Sepals and petals are the vegetative flower organs. Stamens and carpels are the reproductive organs.
Data Collection by Observations01:08

Data Collection by Observations

Data collection refers to a systematic way of obtaining, observing, measuring, and analyzing accurate information. Observational studies are one of the most widely used methods of data collection. It involves collecting data by observing the behavior and physical characteristics of a sample without making any modifications to the sample.
An astronomer viewing the motion and brightness of stars in the sky and recording the data is an example of observational data collection. A botanist recording...
Classification of Illness01:17

Classification of Illness

The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe and...
Observational Studies01:11

Observational Studies

Observational studies are a type of analytical study where researchers observe events without any interventions. In other words, the researcher does not influence the response variable or the experiment's outcome.
There are three types of observational studies – Prospective, retrospective, and cross-sectional.
Prospective Study
Prospective studies, also known as longitudinal or cohort studies, are carried out by collecting future data from groups sharing similar characteristics. One example of...

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Signal Attenuation as a Rat Model of Obsessive Compulsive Disorder
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Behavioural aspects of Pollitt syndrome: a 32-year follow-up of a case described by R. J. Pollitt and colleagues in

K L Murrin1, D J Clarke

  • 1Lea Castle Centre, Kidderminster, UK.

Journal of Intellectual Disability Research : JIDR
|March 19, 2002
PubMed
Summary
This summary is machine-generated.

Trichothiodystrophy, a rare genetic disorder causing brittle hair and intellectual disability, was re-evaluated in a patient with new behavioral symptoms. This study reviews the condition and its associated intellectual disability, offering updated clinical insights.

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Area of Science:

  • Genetics
  • Neurology
  • Dermatology

Background:

  • Trichothiodystrophy (TTD) is a rare autosomal recessive disorder.
  • It is characterized by sulfur-deficient, brittle hair, intellectual disability (ID), and growth retardation.
  • The original description by Pollitt et al. in 1968 detailed two affected siblings.

Purpose of the Study:

  • To re-assess one of the original TTD sibling cases.
  • To describe current clinical features, including new behavioral observations.
  • To summarize the existing literature on TTD and ID.

Main Methods:

  • Clinical re-evaluation of a patient with TTD.
  • Review of medical literature on trichothiodystrophy and intellectual disability.

Main Results:

  • The patient presented with updated clinical features, including ritualistic behaviors.
  • The study provides a comprehensive summary of TTD and its association with ID.

Conclusions:

  • Trichothiodystrophy is a complex genetic syndrome with a wide spectrum of clinical manifestations.
  • Further research is needed to fully understand the genotype-phenotype correlations and long-term outcomes in TTD.
  • Updated clinical descriptions are crucial for accurate diagnosis and management of rare genetic disorders.