Related Experiment Video
Updated: Jun 4, 2025
04:33
Author Spotlight: Unveiling the Connection Between Sleep Disorders and Cognitive Symptoms in Depression
Published on: April 26, 2024
601
Sleep complaints in individuals with SYNGAP1-associated syndrome
Amanda Cristina Mosini1, Mariana Moysés-Oliveira1, Jessica Nayara Goes de Araujo2
1Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil.
Sleep Medicine
|December 29, 2024
Summary
Children with SYNGAP1-associated syndrome experience significant sleep disturbances, including difficulty falling asleep and frequent awakenings. These sleep issues impact both the children and their caregivers, highlighting a need for targeted interventions.
Area of Science:
- Neuroscience
- Genetics
- Sleep Medicine
Background:
- Neurodevelopmental disorders present complex clinical challenges, impacting brain development and leading to diverse symptoms.
- Synaptopathies, affecting synaptic function, are a key group of genetic neuropsychiatric conditions.
- SYNGAP1-associated syndrome, caused by loss-of-function mutations, is characterized by intellectual disability, developmental delays, autism, and epilepsy.
Purpose of the Study:
- To investigate sleep behaviors in children with SYNGAP1-associated syndrome.
- To compare sleep disturbances in this cohort with neurotypical controls.
- To identify specific sleep challenges faced by affected children and their caregivers.
Main Methods:
- Utilized the Children's Sleep Habit Questionnaire and the Sleep Disturbance Scale for Children.
- Compared sleep data from 23 individuals with confirmed SYNGAP1 mutations to age- and sex-matched neurotypical controls.
- Assessed epilepsy prevalence and treatment resistance.
Main Results:
- 78.3% of participants with SYNGAP1 mutations had epilepsy, often treatment-resistant.
- Children with SYNGAP1 syndrome exhibited significantly higher sleep disturbance scores compared to controls.
- Observed increased bedtime resistance, longer sleep duration, more frequent night awakenings, and difficulties sleeping away from home.
Conclusions:
- SYNGAP1-associated syndrome is strongly linked to significant sleep disturbances.
- Sleep problems in these children negatively affect caregivers, indicating a need for family-centered support.
- Targeted interventions are crucial to improve sleep quality for affected children and their families.
Related Concept Videos
01:24Sleep-Wake Cycles
1.2K
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:
1.2K
01:07Narcolepsy
89
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.
89
01:27Restless Leg Syndrome and Night Terrors
149
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...
149
01:13Insufficient Sleep and Sleep Deprivation
133
Insufficient sleep refers to not getting the recommended amount of sleep for optimal functioning, even if it's just slightly less than needed. Sleep insufficiency may occur due to lifestyle choices, such as staying up late for social events or work, resulting in routinely getting less sleep than required. For example, consistently sleeping 6 hours when the body needs 7-9 hours can lead to cumulative effects on health and well-being.
Sleep deprivation is a more severe form of sleep loss...
Sleep deprivation is a more severe form of sleep loss...
133
01:19Management of Insomnia
230
The sleep cycle, an integral part of human health, consists of several stages with distinct characteristics and functions. It begins with a transition from wakefulness to sleep, known as the light sleep phase, followed by the restorative deep sleep phase, essential for physical recovery and growth. The cycle concludes with the Rapid Eye Movement (REM) phase, characterized by high brain activity and vivid dreaming. Insomnia, a prevalent sleep disorder, involves difficulty falling asleep, staying...
230
01:15REM Sleep Behavior Disorder
143
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...
143