Related Experiment Video
Updated: Jan 31, 2026
08:06
Robotic Cochlear Implantation for Direct Cochlear Access
Published on: June 16, 2022
4.0K
Cornelia De Lange Syndrome and Cochlear Implantation
George Psillas1, Stefanos Triaridis1, Vasiliki Chatzigiannakidou1
1Department of ENT, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Iranian Journal of Otorhinolaryngology
|December 19, 2018
Summary
Cornelia de Lange syndrome (CDLS) patients with profound hearing loss can benefit from cochlear implantation. This case study shows improved auditory awareness and sound localization in a young boy with CDLS.
Area of Science:
- Genetics and Developmental Disorders
- Audiology and Hearing Restoration
- Pediatric Medicine
Background:
- Cornelia de Lange syndrome (CDLS) is associated with severe to profound sensorineural hearing loss in approximately 50% of cases.
- Congenital profound sensorineural hearing loss presents a significant challenge in early childhood development.
- Cochlear implantation is a well-established treatment for profound hearing loss.
Observation:
- A 3-year-old boy diagnosed with CDLS presented with congenital bilateral profound sensorineural hearing loss.
- The child exhibited characteristic features of CDLS, including facial anomalies, limb malformations, and developmental delays.
- The patient underwent successful unilateral cochlear implantation.
Findings:
- Post-implantation, the child demonstrated modest gains in speech perception and expressive vocabulary.
- Significant improvements were observed in auditory development, including enhanced sound localization and environmental sound awareness.
- The cochlear implant provided substantial auditory benefits despite developmental challenges.
Implications:
- Cochlear implantation criteria are expanding to include children with complex disabilities like CDLS.
- Profoundly hearing-impaired children with borderline intellectual functioning may be suitable candidates for cochlear implantation.
- This case highlights the potential of cochlear implants to improve auditory awareness and quality of life in children with CDLS.
Related Concept Videos
01:16Physiological Theories: James-Lange Theory of Emotion
2.2K
The James-Lange theory of emotion, proposed by William James and Carl Lange in the late 19th century, asserts that emotions are the result of physiological reactions to external stimuli. Contrary to the traditional view, which suggests that emotions directly arise from the perception of stimuli, this theory proposes that emotions occur as a consequence of the body's responses to such stimuli. According to this framework, an emotional experience is a cognitive interpretation of physiological...
2.2K
01:24Nephrotic Syndrome I : Introduction
633
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
633
01:30Acute Coronary Syndrome I: Introduction
990
Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
990
01:17Irritable Bowel Syndrome I: Introduction
1.0K
Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
1.0K
01:27Restless Leg Syndrome and Night Terrors
560
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...
560
01:26Acute Coronary Syndrome V: Nursing Management
325
Nursing Assessment:Nursing management of acute coronary syndrome (ACS) involves taking the patient's history, focusing on primary complaints such as chest pain, dyspnea, and excessive sweating (diaphoresis), as well as other symptoms like back or jaw pain, nausea, vomiting, palpitations, dizziness, and fatigue. The nurse also reviews the patient's history of cardiac events, risk factors such as hypertension, diabetes, smoking, family history, and current medications.In the objective assessment,...
325