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This study will try to determine what causes learning, behavioral and emotional problems in children with chronic granulomatous disease (GCD) and other phagocyte disorders. (Phagocytes are a type of white blood cell.) Children with these disorders have frequent severe infections that require hospitalization, sometimes for long periods of time. Many of them also have problems with school, learning, behavior, anxiety and depression. This study will explore whether these latter problems are a direct result of the illness itself or are a consequence of frequent, long hospitalizations, or are due to other factors. Test findings in these children will be compared with those of children with cystic fibrosis-another disease that causes frequent infections requiring prolonged hospitalization.
Patients age 2 or older with GCD or other phagocytic disorders or cystic fibrosis may be eligible for this study. Participants (or a parent or guardian) will complete questionnaires including personal information such as age, gender and marital status, a family medical history, and information on their illness. Patients will be given various psychological and intelligence tests, and they and their parents or guardians will be interviewed by a child psychiatrist. The tests and interviews take a total of about 5 hours and are given in two or three separate sessions.
The tests may reveal problems such as learning disorders, attention-deficit hyperactivity disorder, anxiety, or depression. If any of these problems are identified, appropriate referrals will be made for specialized services, such as special school placement, tutoring, or counseling.
Leukocyte disorders are predominantly genetic diseases in which phagocytes fail to function normally resulting in recurrent infections. Children with these disorders are subject to recurrent, severe, often life-threatening infections and are hospitalized more frequently than their peers. Frequent hospitalization and chronic illness can affect growth, development, socialization, and educational opportunities.
Specifically, chronic granulomatous disease (CGD) is an inherited disorder in which phagocytes fail to generate an oxidative burst. In 26 patients followed at the NIH tested for behavioral problems at the request of a parent or staff member, we have observed a 23% rate of mild mental retardation. However, it is not clear whether this is due to CGD per se or the recurrent infections and hospitalizations. We seek to determine the prevalence of cognitive disabilities in children with CGD and other leukocyte disorders. We seek to determine whether abnormal leukocyte functioning may be related to specific behavioral phenotypes or impaired cognitive functioning. We also seek to clarify whether impaired cognitive functioning is related to the effects of frequent and prolonged hospitalization or other variables such as severity of illness in this population.
Chediak Higashi Syndrome
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health Clinical Center (CC)
Published on BioPortfolio: 2014-08-27T03:57:36-0400
This study will investigate the underlying cause of Chediak-Higashi syndrome (CHS)-a rare inherited disease-and define the full spectrum of medical complications associated with it. It wil...
OBJECTIVES: I. Determine the efficacy of unrelated donor hematopoietic stem cell transplantation in the treatment of patients with life threatening hemophagocytic disorders. II. Determi...
This study will: 1) determine the biochemical and genetic causes of inherited immune diseases affecting phagocytes (white blood cells that defend against bacterial and fungal infections); ...
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To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS).
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A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
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Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
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