The impact of tuberous sclerosis complex – a parent’s perspective

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Abstract

Purpose – The purpose of this paper is to describe the impact of having a child with tuberous sclerosis complex (TSC). Design/methodology/approach – The author explains the process her family has been through on their TSC journey. Findings – Several themes emerge from the author’s story: a lack of awareness about relatively common conditions such as epilepsy; a dearth of accessible information provided to families; delays in identification/assessment and a lack of follow up on parents’ concerns; the wide range in the quality of advice provided from one professional/service to another; the extent to which parents have to advocate for their children and the importance of social support. Originality/value – Few journal articles explore the impact of complex health conditions on families from their perspective and in their own words. This thought provoking viewpoint piece provides a powerful insight into the reality of having a child with TSC.

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Most cited references 6

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Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist.

Petrus de Vries, Vicky Whittemore, Loren Leclezio … (2015)

Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance, and management. Individuals with tuberous sclerosis complex also have a range of behavioral, psychiatric, intellectual, academic, neuropsychologic, and psychosocial difficulties. These may represent the greatest burden of the disease. Around 90% of individuals with tuberous sclerosis complex will have some of these difficulties during their lifetime, yet only about 20% ever receive evaluation and treatment. The Neuropsychiatry Panel at the 2012 Tuberous Sclerosis Complex International Consensus Conference expressed concern about the significant "treatment gap" and about confusion regarding terminology relating to the biopsychosocial difficulties associated with tuberous sclerosis complex.

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Targeted treatments for cognitive and neurodevelopmental disorders in tuberous sclerosis complex.

Petrus de Vries (2010)

Until recently, the neuropsychiatric phenotype of tuberous sclerosis complex (TSC) was presumed to be caused by the structural brain abnormalities and/or seizures seen in the disorder. However, advances in the molecular biology of the disorder have shown that TSC is a mammalian target of rapamycin (mTOR) overactivation syndrome, and that direct molecular pathways exist between gene mutation and cognitive/neurodevelopmental phenotype. Molecularly-targeted treatments using mTOR inhibitors (such as rapamycin) are showing great promise for the physical and neurological phenotype of TSC. Pre-clinical and early-phase clinical studies of the cognitive and neurodevelopmental features of TSC suggest that some of the neuropsychiatric phenotypes might also be reversible, even in adults with the disorder. TSC, fragile X, neurofibromatosis type 1, and disorders associated with phosphatase and tensin homo (PTEN) mutations, all signal through the mTOR signaling pathway, with the TSC1-TSC2 protein complex as a molecular switchboard at its center. Together, these disorders represent as much as 14% of autism spectrum disorders (ASD). Therefore, we suggest that this signaling pathway is a key to the underlying pathophysiology of a significant subset of individuals with ASD. The study of molecularly targeted treatments in TSC and related disorders, therefore, may be of scientific and clinical value not only to those with TSC, but to a larger population that may have a neuropsychiatric phenotype attributable to mTOR overactivation or dysregulation. (c) 2010 The American Society for Experimental NeuroTherapeutics, Inc. Published by Elsevier Inc. All rights reserved.

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Infantile spasms: little seizures, BIG consequences.

W Shields (2015)

Infantile spasms is one of the "catastrophic childhood epilepsies" because of the difficulty in controlling seizures and the association with mental retardation. However, early recognition, a careful diagnostic evaluation, and proper treatment may allow some children to attain seizure control and to achieve a normal, or at least much improved, level of development. Thus, there is the opportunity to have an important impact in the lives of these unfortunate children and their families.