Primary Steps for Primary Care: Evaluation and behavior management in children with developmental and/or cognitive delays


Management of behavioral problems in children can be challenging, particularly in those with developmental or cognitive delays. In these cases, determining the source of adverse behaviors and developing a treatment plan appropriate for the abilities of the child can be barriers to successful treatment. In this article,Lisa Elliott, Ph.D. discusses the evaluation and management of … Continue reading Primary Steps for Primary Care: Evaluation and behavior management in children with developmental and/or cognitive delays

Primary steps for primary care: Tuberous sclerosis complex (TSC)


TSC is an autosomal dominant neurocutaneous disorder affecting one in every 6,000-10,000 people. TSC manifests with multi-organ involvement including the skin, central nervous system, heart, lungs, eyes and kidneys. The most common identified cause is a variant in the tumor suppressor genes TSC1 or TSC2, on chromosomes 9p34 and 16p13, respectively. Abnormalities of these genes … Continue reading Primary steps for primary care: Tuberous sclerosis complex (TSC)

New program aims to improve access to mental health services


Disorders of the nervous system frequently include symptoms and comorbid conditions beyond those typically managed by neurologists and neurosurgeons. For example, patients with Dravet syndrome can experience hyperactivity and impulsive behavior, while patients with muscular dystrophy more frequently experience mental health disorders like depression, anxiety and other cognitive impairments. Addressing both the physical and mental … Continue reading New program aims to improve access to mental health services

Primary steps for primary care: Sleep disorders in epilepsy and cerebral palsy


Sleep disorders are common among the general pediatric population, but children with neurologic conditions are more likely to develop certain sleep disorders. Two of the most common pediatric neurologic conditions—epilepsy and cerebral palsy—and their frequently associated sleep disorders are presented here. Recognizing the elements that contribute to sleep disturbances in these unique populations can guide … Continue reading Primary steps for primary care: Sleep disorders in epilepsy and cerebral palsy

Primary Steps for Primary Care: Microcephaly


Central to a newborn examination is the tracking of growth parameters; head circumference is a key component in that evaluation. Identification of an abnormal head circumference, especially in the context of developmental delays, warrants evaluation by a neurologist and possibly a geneticist. Though it’s a frequently encountered exam finding, microcephaly is a poorly defined condition … Continue reading Primary Steps for Primary Care: Microcephaly

Neurofibromatosis type 1 – Primary Steps for Primary Care


Neurofibromatosis (NF) type 1 is a common genetic disorder, occurring in one out of 2,700 people.  It is inherited as an autosomal dominant, fully penetrant genetic disorder, though 50% of new presenters are de novo mutations. The genetic abnormality arises from the neurofibromin gene on chromosome 17 which, when intact, suppresses tumor growth.  How is … Continue reading Neurofibromatosis type 1 – Primary Steps for Primary Care

Arachnoid Cysts – Primary Steps for Primary Care


A frequent reason for urgent calls to our neurosurgery clinic is the incidental finding of an arachnoid cyst on a CT or MRI scan of the brain. Often these imaging studies are ordered for headaches, possible seizures, post-concussion symptoms or other neurologic concerns. As the ordering physician, the primary care doctor must determine what role, … Continue reading Arachnoid Cysts – Primary Steps for Primary Care

Infantile Spasms – Primary Steps for Primary Care


A type of severe seizure, infantile spasms require urgent evaluation and treatment. Unfortunately, the diagnosis of infantile spasms is too often delayed because they may be subtle, go unrecognized, or be misdiagnosed as some other less serious condition (i.e., reflux). When associated with an electroencephalography (EEG) pattern of hypsarrhythmia (Figure 1), this is known as … Continue reading Infantile Spasms – Primary Steps for Primary Care

Torticollis – Primary Steps for Primary Care


Torticollis is characterized by a lateral head tilt with the chin rotated in the opposite direction. It can be caused by many conditions, most commonly as a result of congenital asymmetry in the lengths of the sternocleidomastoid (SCM) muscles. Torticollis occurs in approximately 0.3-1.9% of all live births, more frequently in males, and most commonly … Continue reading Torticollis – Primary Steps for Primary Care

Renewed Hope: Novel Treatments for Spinal Muscular Atrophy Improving Outcomes


Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease that presents as progressive muscle weakness secondary to loss of lower motor neurons in the brainstem and spinal cord. With an incidence of 1 in 10,000 live births, SMA is the most common genetic cause of death in infancy, but new treatments may soon … Continue reading Renewed Hope: Novel Treatments for Spinal Muscular Atrophy Improving Outcomes