TUBEROUS SCLEROSIS ASSOCIATED NEUROPSYCHIATRIC DISORDERS (TAND): A PEDIATRIC CASE STUDY

Congratulations Dr. Greco for his recent publication in the American Academy of Pediatric Neuropsychology! 

Introduction: TAND is an autosomal dominant
disorder from mutations in either the TSC1 or TSC2
genes. These genes are responsible for encoding
hamartin and tuberin, respectively, and are proteins
which function as tumor suppressors. TAND causes
the growth of benign tumors on the brain and across
other parts of the body, such as the spinal cord, eyes,
heart, and kidneys.
Objective: To reintroduce Tuberous Sclerosis
Complex as TAND, from a comprehensive
biopsychosocial perspective.
The acronym TAND was introduced in 2012 to unify
the neurobiological, psychological, and social aspects
of Tuberous Sclerosis Complex, and to encapsulate
all possible functional manifestations, complications,
and consequences as they relate to
neurodevelopmental, neurocognitive,
neurobehavioral, and a host of adaptive abilities.
Furthermore, to discuss the neuropsychological
analysis of differentiating co-occurring conditions as
a result of TAND.
Method: This patient is a 5-year-old, Caucasian,
right-handed female who was referred by her
neurologist as a result of delayed speech and
difficulties with fine motor, short-term memory, and
language.
The patient continues to experience uncontrolled
seizures. A cerebral MRI was noteworthy for
“multiple benign tumors.” Diagnostic clarity was
recommended to differentiate this child’s
neuropsychological strengths and weaknesses.
Initial diagnostic impression was consistent with
ADHD (acquired), and diffuse neuropsychological
impairment secondary to TAND.
Results: This patient was administered the Reitan
Indiana Neuropsychological Battery.
Neuropsychological test results were consistent with
deficits in attention, visual spatial analysis,
receptive-expressive language, and gross/fine motor
abilities.
Conclusion: Patients with TAND commonly develop
neurological symptoms. These include: epilepsy,
autism spectrum disorders, intellectual disabilities,
attention-deficit/hyperactivity disorder, mood
disorders, anxiety, sleep disorders, and other
behavioral problems.

Steven P. Greco, PhD, ABN