Related Experiment Video
Updated: Mar 21, 2026
05:59
Author Spotlight: Overcoming Challenges in Drosophila Sleep Measurement Using DAM System
Published on: October 20, 2023
3.3K
Sleep disorders in Cornelia de Lange syndrome
Summary
Sleep disorders are common in Cornelia de Lange syndrome (CdLS), affecting over half of patients. These issues are linked to epilepsy, GERD, intellectual disability, and behavioral problems, suggesting they are key indicators for other health conditions.
Area of Science:
- Genetics
- Pediatrics
- Sleep Medicine
Background:
- Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with diverse symptoms including intellectual disability and physical abnormalities.
- Sleep disturbances are frequently noted in CdLS patients but lack comprehensive characterization and consistent prevalence data.
Purpose of the Study:
- To characterize and determine the prevalence of sleep disorders in children with Cornelia de Lange syndrome.
- To investigate associations between sleep disturbances and other medical/neuropsychiatric conditions in CdLS.
Main Methods:
- A validated questionnaire, the Sleep Disturbances Scale for Children (SDSC), was administered to parents/caregivers of 46 CdLS patients over 3 years old.
- Patients were assessed for epilepsy, intellectual disability (ID), behavioral problems, GERD, and genetic test results.
Main Results:
- 15.2% of patients had abnormal total sleep scores, while 56.5% had borderline scores.
- 39.1% exhibited abnormal scores for at least one SDSC factor, indicating widespread sleep issues.
- Sleep disorders were significantly associated with epilepsy, GERD, ID, and behavioral disturbances.
Conclusions:
- Sleep disorders are a common and significant issue in CdLS, with a higher incidence than in the general population.
- Sleep disturbances in CdLS appear more prevalent in patients with comorbid conditions, serving as potential clinical indicators.
- Further characterization of sleep disorder typologies in CdLS could lead to more targeted therapeutic interventions.
More Related Videos
06:23A Chronic Sleep Fragmentation Model using Vibrating Orbital Rotor to Induce Cognitive Deficit and Anxiety-Like Behavior in Young Wild-Type Mice
Published on: September 22, 2020
6.2K
04:33Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression
Published on: April 26, 2024
1.6K
Related Concept Videos
01:07Narcolepsy
728
Narcolepsy is a chronic sleep disorder characterized by pervasive, uncontrolled sleepiness and other sleep disturbances. One of its hallmark symptoms is an abrupt transition to REM sleep upon falling asleep, which causes symptoms typically associated with this phase to occur unexpectedly during wakefulness. These include the following symptoms, which typically last from a minute or two to half an hour.
728
01:18Nightmares and Night Terrors
754
Nightmares and night terrors represent two distinct types of sleep disturbances that differ in timing, characteristics, and the sleeper's recall of the event. Nightmares are vivid, disturbing dreams that usually awaken the sleeper from REM sleep, a stage of sleep where brain activity is high, and dreams are most frequent. Upon awakening, individuals often have detailed recollections of their nightmares, which can include themes of threats to survival, security, or self-esteem.
Nightmares...
Nightmares...
754
01:24Sleep-Wake Cycles
3.2K
Sleep is an essential physiological process vital to maintaining overall well-being. The reticular activating system (RAS), a network of neurons in the brainstem, regulates wakefulness and sleep. While it may seem passive, sleep consists of distinct cycles, each with its unique characteristics and functions. Two key sleep phases are non-rapid eye movement (NREM) and rapid eye movement (REM).
NREM Sleep
NREM sleep comprises four progressive stages that seamlessly merge:
NREM Sleep
NREM sleep comprises four progressive stages that seamlessly merge:
3.2K
01:27Restless Leg Syndrome and Night Terrors
750
Restless Leg Syndrome (RLS), also known as Willis-Ekbom disease, is a neurological disorder characterized by an uncontrollable urge to move the legs due to uncomfortable sensations. These sensations typically occur during periods of rest or inactivity, particularly when lying down or sitting, and can severely disrupt sleep.
The exact cause of RLS is not fully understood, but it is believed to involve dopamine, a neurotransmitter that helps regulate muscle movement. Imbalances in dopamine levels...
The exact cause of RLS is not fully understood, but it is believed to involve dopamine, a neurotransmitter that helps regulate muscle movement. Imbalances in dopamine levels...
750
01:15REM Sleep Behavior Disorder
2.4K
REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
RBD is significantly associated with...
RBD is significantly associated with...
2.4K
02:19Circadian Rhythms and Gene Regulation
4.7K
The biological clock is involved in many aspects of regulating complex physiology in all animals. It was in 1935 when German zoologists, Hans Kalmus and Erwin Bünning, discovered the existence of circadian rhythm in Drosophila melanogaster. However, the internal molecular mechanisms behind the circadian clock remained a mystery until 1984, when Jeffrey C. Hall, Michael Rosbash, and Michael W. Young discovered the expression of the Per gene oscillating over a 24-hour cycle. In subsequent...
4.7K