Psychological profile of adults with tuberous sclerosis complex

Pulsifer, Margaret B.; Winterkorn, Elisabeth B.; Thiele, Elizabeth A.

doi:10.1016/j.yebeh.2007.02.004

Cited by 36 publications

(22 citation statements)

References 12 publications

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“…These findings are interesting in light of reports that show a considerable prevalence of anxiety disorders in human TSC populations (de Vries et al, 2007; Lewis et al, 2004; Muzykewicz et al, 2007; Pulsifer et al, 2007; Raznahan et al, 2006). TSC-related anxiety disorders tend to overlap with mood disorders and may be more common in cognitively less impaired individuals (Muzykewicz et al, 2007) although this association of cognitive ability and anxiety has not been found in other studies (de Vries et al, 2007).…”

Section: Discussionsupporting

confidence: 58%

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Increased Levels of Anxiety-related Behaviors in a Tsc2 Dominant Negative Transgenic Mouse Model of Tuberous Sclerosis

Ehninger

Silva

2010

Behav Genet

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Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in the TSC1 or TSC2 gene. TSC is often associated with neurological (e.g., epilepsy) and cognitive (intellectual disabilities, specific neuropsychological impairments) dysfunction, as well as neurodevelopmental disorders (e.g., autism, ADHD). In addition, there is a high prevalence of psychiatric problems in TSC populations, including anxiety and mood disorders. To date, little is known about the pathogenetic bases of these associated psychiatric symptoms; for instance, it is unclear whether they are rooted in TSC-associated neurobiological alterations or whether they are secondary psychological phenomena (e.g., because individuals have to cope with the burden of the disease). Here, we report elevated levels of anxiety-related behaviors and mild deficits in two hippocampal-dependent learning tasks in a Tsc2 dominant-negative transgenic mouse model of tuberous sclerosis. These findings establish a mouse model for TSC-related anxiety phenotypes and suggest that anxiety disorders in tuberous sclerosis have a biological foundation.

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Section: Discussionsupporting

confidence: 58%

“…In addition to the manifestations mentioned above, psychiatric co-morbidities are also very common in TSC populations (de Vries et al, 2007; Lewis et al, 2004; Muzykewicz et al, 2007; Pulsifer et al, 2007; Raznahan et al, 2006). The most frequent psychiatric manifestations include mood, anxiety and adjustment disorders.…”

Section: Introductionmentioning

confidence: 99%

Increased Levels of Anxiety-related Behaviors in a Tsc2 Dominant Negative Transgenic Mouse Model of Tuberous Sclerosis

Ehninger

Silva

2010

Behav Genet

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“…Women with TSC diagnosed in adulthood frequently presented with pulmonary LAM or renal angiomyolipomas, but they, as shown in other studies of adults with TSC (32), were less likely to have seizures or had seizures later in life (8, 33). Most of the patients in this study had no family history of TSC at the time of diagnosis, which is consistent with the observation that TSC occurs sporadically in about two thirds of patients (34).…”

Section: Discussionmentioning

confidence: 61%

“…Among the women with mild TSC in childhood, there may be referral bias toward those who developed more severe disease later in life. Patients were capable of providing informed consent, reducing the numbers of patients with more severe involvement of their central nervous system and probably contributing to the lower frequency of seizures in this study sample than in other TSC studies (32). The data on age at onset were self-reported and retrospective.…”

Section: Discussionmentioning

confidence: 99%

Recognition of Tuberous Sclerosis in Adult Women: Delayed Presentation With Life-Threatening Consequences

Seibert¹,

Hong²,

Takeuchi³

et al. 2011

Ann Intern Med

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Background-Tuberous sclerosis complex (TSC) is associated with tumor development in the brain, retina, kidney, skin, heart, and lung. Seizures, intellectual disability, and characteristic skin lesions commonly manifest in early childhood, but some findings, notably renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM), emerge later, placing adults with undiagnosed TSC at increased risk for morbidity and mortality.

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“…20 A recent study showed the combined incidence of psychopathology to be 45% in adults with tuberous sclerosis. 21 Tuberous sclerosis is a multisystem disorder. Management should focus not only on the physical effects of the condition but also on the psychological effect on patients and their families.…”

Section: Neurodevelopmental Prognosismentioning

confidence: 99%