Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency

Rogers, M. H.; Lwin, Rebekah; Fairbanks, Lynette D.; Gerritsen, B; Gaspar, H. Bobby

doi:10.1067/mpd.2001.115023

Cited by 108 publications

(76 citation statements)

References 27 publications

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“…10 To investigate whether these variables affected outcome, patients were categorized into 2 groups according to their dATP level at presentation; group 1 included patients with a dATP of 0-1000M and group 2 included patients with levels Ͼ 1000M. No significant difference in TRM or OS was observed between the 2 groups (P ϭ .89 and P ϭ .56, respectively; supplemental Figure 2C).…”

Section: Analysis Of Other Variables That Contribute To Outcomementioning

confidence: 99%

“…5 The ubiquitous nature of ADA expression does, however, lead to significant nonimmunologic defects, including costochondral and skeletal dysplasias, 6 neurologic deficits that involve motor function, 7 bilateral sensorineuronal deafness, 8 hepatic dysfunction, 9 and defects in cognitive and behavioral function. 10,11 The underlying pathogenesis and variety of clinical defects suggest that ADA deficiency is a metabolic disease with the most severe manifestations in the immune system.…”

Section: Introductionmentioning

confidence: 99%

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Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

Hassan¹,

Booth²,

Brightwell³

et al. 2012

Blood

159

134

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Deficiency of the purine salvage enzyme adenosine deaminase leads to SCID (ADA-SCID). Hematopoietic cell transplantation (HCT) can lead to a permanent cure of SCID; however, little data are available on outcome of HCT for ADA-SCID in particular. In this multicenter retrospective study, we analyzed outcome of HCT in 106 patients with ADA-SCID who received a total of 119 transplants. HCT from matched sibling and family donors (MSDs, MFDs) had significantly better overall survival (86% and 81%) in comparison with HCT from matched unrelated (66%; P < .05) and haploidentical donors (43%; P < .001). Superior overall survival was also seen in patients who received unconditioned transplants in comparison with myeloablative procedures (81% vs 54%; P < .003), although in unconditioned haploidentical donor HCT, nonengraftment was a major problem. Long-term immune recovery showed that regardless of transplant type, overall T-cell numbers were similar, although a faster rate of T-cell recovery was observed after MSD/MFD HCT. Humoral immunity and donor B-cell engraftment was achieved in nearly all evaluable surviving patients and was seen even after unconditioned HCT. These data detail for the first time the outcomes of HCT for ADA-SCID and show that, if patients survive HCT, long-term cellular and humoral immune recovery is achieved. (Blood. 2012;120(17):3615-3624)

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Section: Analysis Of Other Variables That Contribute To Outcomementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

Hassan¹,

Booth²,

Brightwell³

et al. 2012

Blood

159

134

View full text Add to dashboard Cite

show abstract

“…However, studies of psychological functioning post transplant have shown that this group of children are at increased risk of both cognitive difficulties and emotional and behavioural problems in the long term, including increased rates of peer relationship difficulties. 1,2 These problems are of concern because childhood social difficulties are strongly associated with later negative outcomes in adulthood and affect the development of later relationships and social skills. 3,4 Although the reported cognitive and behavioural difficulties have been shown to be at least partly associated with the child's underlying genetic condition, these children may also be more vulnerable to social difficulties because they have a very abnormal experience in early childhood, including extended periods of illness and social isolation as part of the management and treatment of their immunodeficiency.…”

Section: Introductionmentioning

confidence: 99%

Social outcome in children treated by haematopoietic cell transplant for congenital immunodeficiency

Skucek

Butler

Gaspar³

et al. 2011

Bone Marrow Transplant

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Previous studies have reported increased rates of social difficulties in children treated by haematopoietic cell transplant (HCT). This study assessed social functioning in children with congenital immunodeficiency treated by HCT and investigated two potential underlying mechanisms that may explain social difficulties: executive function skills and physical appearance. In total, 31 children (8-16 years of age) were assessed on measures of social functioning and peer relationships, executive function and physical appearance. Results were compared with a control group of 31 healthy children, matched for age, gender, ethnicity and cognitive ability. Parent, teacher and self-report data were collected. HCT survivors were described by parents and teachers, but not by themselves, as experiencing more difficulties with social functioning than the control group. Executive function was not associated with social functioning. However, an objective measure of physical appearance was significantly associated with social functioning. Results suggest that children treated by HCT for congenital immunodeficiency do experience significant difficulties in social functioning, not solely accounted for by below average intelligence. These difficulties are associated with physical appearance, but not with executive functional skills. This has clinical implications for identifying and treating children at increased risk of difficulties with social functioning.

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“…Cognitive function is adversely affected by the severity of metabolic derangement at diagnosis and a significant inverse correlation has been shown between dATP levels at diagnosis and IQ score. 8 Significant behavioral abnormalities are also seen in these patients which is not related to the process of transplantation as demonstrated by a case-matched study. 8 Post mortem findings in eight children with ADA deficiency revealed non-lymphoid multisystem pathologic changes, mainly renal and skeletal.…”

Section: Presentationmentioning

confidence: 84%

“…8 Significant behavioral abnormalities are also seen in these patients which is not related to the process of transplantation as demonstrated by a case-matched study. 8 Post mortem findings in eight children with ADA deficiency revealed non-lymphoid multisystem pathologic changes, mainly renal and skeletal. 9 Autoimmune phenomena such as idiopathic thrombocytopenia and hemolytic anemia are well described.…”

Section: Presentationmentioning

confidence: 84%

Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID

Gaspar¹

2009

BTT

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Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency

Cited by 108 publications

References 27 publications

Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

Social outcome in children treated by haematopoietic cell transplant for congenital immunodeficiency

Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID

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