Clinical Trials and Research Studies on 22q11.2 Deletion Syndrome - Research indicates children with 22q11.2 deletion syndrome display significant characteristics in neuropsychological tests. Their IQ is normal, rather just at normal levels.
Clinical Trials and Medical Research Studies on 22q11.2 Deletion Syndrome
New York (USA), June 16, 2013
Clinical Trials and Medical Research Studies
22q11.2 deletion syndrome has varied features. Even if syndrome affects members of same family, affliction is different across different body parts of family members. Yet, characteristic afflictions include those of heart, neuromuscular, facial, learning, behavioral, and persistent infections. Brain development in cerebrum and cerebella areas is significantly low thereby affecting brain anatomy.
In newborn children, 22q11.2 deletion syndrome is detected if baby suffers from hypocalcaemic convulsions, heart defects, or has alarmingly low levels of parathyroid hormone. Some babies suffer from feeding difficulties and abnormalities of kidney. Other symptoms like low platelet levels or thrombocytopenia, hypothyroidism, behavioral disorders, mental and psychiatric ailments develop later in life as your child grows. Rather these ailments come to the fore only then.
Research indicates children with 22q11.2 deletion syndrome display significant characteristics in neuropsychological tests. Their IQ is just at normal levels. They have low verbal scores than in non-verbal areas. However, they pose a high risk of developing schizophrenia. Speech and language deficiencies are more prominent.
Common problem areas include speech sound errors, language delays, and hypernasality. Speech sound error is limited and hence is difficult to comprehend. Speech sounds emanate more from the back and front of vocal tract. Sounds emanating from middle vocal tract are missing. Structural abnormalities of the palate are mainly responsible for these speech sound errors. This problem is more prominent in young children and reduces as they grow and mature.
Children with deletion syndrome have a very poor vocabulary, rather are non-verbal even at the age of two or three. Some children improve as they start school; yet, encounter major delays in forming complex sentences or in narration. Similarly, such children suffer from impaired ability to comprehend or retain spoken language. Often, in children with deletion syndrome, air escapes through nose during speech. This is hypernasality. Hence, such speech is difficult to comprehend. This occurs mainly due to palatal disorders, which is common in deletion syndrome. Hearing impairment coupled with hypernasality compounds the problem. Surgery is the best remedial option in such cases.
22q11.2 Deletion Syndrome – Definition and Diagnosis
Definition and Diagnosis of 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Causes and Evaluation
Causes and Evaluation of 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Signs and Symptoms
Signs and Symptoms of 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Complications and Risk Factors
Complications and Risk Factors for 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Diagnostic Tests and Procedures
Diagnostic Tests and Procedures for 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Treatments and Medications
Treatments and Medications for 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Home Remedies and Alternative Therapies
Home Remedies and Alternative Therapies for 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Prevention and Coping
Prevention and Coping with 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Lifestyle Changes and Self-Help
Lifestyle Changes and Self-Help for 22q11.2 Deletion Syndrome
22q11.2 Deletion Syndrome – Prevention, Treatment, and Remedies
22q11.2 Deletion Syndrome – Causes, Symptoms, Diagnosis, Prevention, Treatment, and Remedies