Martin, VT; Allen, JR; Houle, TT; Powers, SW; Kabbouche, MA; O'Brien, HL; Kacperski, J; LeCates, SL; White, S; Vaughan, P; Mandell, K; Hershey, AD. Ovarian hormones, age and pubertal development and their association with days of headache onset in girls with migraine: An observational cohort study. Cephalalgia: an international journal of headache. 2018; 38(4):707-717.
The prevalence of migraine is equal in boys and girls prior to puberty, transitioning to a ratio 3:1 (female:male) in adulthood. Understanding the hormonal processes by which this occurs may have significant impact on interventions and improved outcomes. This manuscript addresses the hormonal influences in migraine presentation using a daily assessment of urinary hormones prepubertal, pubertal and post-pubertal - demonstrating a transition in the hormonal sensitization.
Tenney, JR; Kadis, DS; Agler, W; Rozhkov, L; Altaye, M; Xiang, J; Vannest, J; Glauser, TA. Ictal connectivity in childhood absence epilepsy: Associations with outcome. Epilepsia. 2018; 59(5):971-981.
Childhood absence epilepsy is one of the most common epilepsies of childhood has historically be thought of as a generalized epilepsy. Using advanced neurophysiology and imaging techniques, this manuscript addresses the connectivity (i.e., connectome) as a biomarker for CAE and its response patterns.
Wei, C; Stock, L; Valanejad, L; Zalewski, ZA; Karns, R; Puymirat, J; Nelson, D; Witte, D; Woodgett, J; Timchenko, NA; Timchenko, L. Correction of GSK3 beta at young age prevents muscle pathology in mice with myotonic dystrophy type 1. The FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2018; 32(4):2073-2085.
Myotonic dystrophy is one of the most common neuromuscular dystrophies in adulthood, while also having a rarer congenital form. It's molecular biology is based on triplet repeats with anticipation from one generation to the next. Treatment has been limited and largely responsive to symptoms. This manuscript addresses a mechanistic approach to the treatment of myotonic dystrophy. Results of this study are currently the basis for a phase 2 clinical trial to treat myotonic dystrophy.
Barfell, KSF; Snyder, RR; Isaacs-Cloes, KM; Garris, JF; Roeckner, AR; Horn, PS; Guthrie, MD; Wu, SW; Gilbert, DL. Parent and Patient Perceptions of Functional Impairment Due to Tourette Syndrome: Development of a Shortened Version of the Child Tourette Syndrome Impairment Scale. Journal of Child Neurology. 2017; 32(8):725-730.
Tourette Syndrome is a movement disorder/neuropsychiatric disorder that can significantly impact a child's and their family's lives. Although this impairment can be assessed with the Child Tourette Syndrome Impairment Scale (CTIM), this instrument is long (37 items) and somewhat cumbersome to complete on a regular basis. This manuscript describes the development of shorter version (mini-CTIM) and its wide application as a routine clinical instrument.
Krueger, DA; Sadhwani, A; Byars, AW; de Vries, PJ; Franz, DN; Whittemore, VH; Filip-Dhima, R; Murray, D; Kapur, K; Sahin, M. Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders. Annals of Clinical and Translational Neurology. 2017; 4(12):877-887.
Tuberous sclerosis complex is a genetic disorder that has impact on multiple organs including the brain, lung and kidneys. Everolimus (an mTOR inhibitor) that as a class has been demonstrated to treat tubers and growths associated with TSC, as well as treat epilepsy. To date the mTOR inhibitors have seen a wide positive efficacy and this study demonstrated that this was not universal, as it did not impact neurocognitive or behavioral problems.