Expanding the Phenotype of CYFIP2-Related Developmental Epileptic Encephalopathy: Case Report and Literature Review.

Children experiencing violence is an unsettling reality occurring regardless of sex, gender, age, or socioeconomic status., Each of our communities has friends, neighbors, and coworkers who are overlooked daily despite established factors helping to predict those at risk for experiencing abuse. Children present in homes experiencing domestic violence are at increased risk of being harmed, with one in three children being abused. Physical injuries may be the result of being a primary target, an unintentional bystander, or a human shield. When forces are directed to the head and neck, abusive head trauma (AHT) and traumatic brain injury (TBI) occur, resulting in chronic, life‐altering injuries. The incidence of AHT is challenging to quantify but is suspected to occur in at least 1000–1500 infants per year (in the United States), with a peak incidence in males at 1 year of life (although increased in males ages 0–9 years old). In the most severe instances, AHT is a leading cause of morbidity and mortality in children under 5 years of age. Yet TBIs exist on a spectrum of severity. While physical injuries such as bruises and broken limbs are often obvious and dichotomous, repetitive mild traumatic brain injuries (mTBIs) are invisible to the naked eye and may have a delayed onset of signs or symptoms. Often, debilitating symptoms are only realized if inquired about and without any evidence of external, physical injury. Furthermore, children experiencing abuse are more likely to sustain repetitive brain injuries due to prolonged exposure to the abuser. On average, survivors will experience 2–3 years of abuse before they are able to escape the inciting individual. Survivors of child abuse thus experience a combination of repetitive mTBI, delayed diagnosis, and improper rehabilitation that increases their risk for developing debilitating cognitive, behavioral, and affective disorders. These symptoms make it challenging for children to meet developmental milestones and engage properly at home, in school, and throughout society. Identifying patients with repetitive mTBI due to child abuse must be an initial step toward caring for all pediatric brain injuries. Recently, athletics has been among the more prominent activities discussed that place children at risk for encountering an mTBI. As a result, children participating in sports have received safeguards that have improved detection, treatment, and rehabilitation of mTBI (i.e., concussions). However, our focus on mTBI occurring in the athletic community has overlooked those experiencing mTBIs through trauma, assaults, and violence. It is estimated that TBIs in the context of domestic violence are at least 12 times higher than occupational, recreational, and accidental events. Thus, children experiencing abuse are equally at risk for repetitive mTBI but do not receive the same provisions for diagnosis or rehabilitation. The American Academy of Pediatrics (AAP) policy acknowledges the importance of identifying TBI in children who experience abuse and AHT., Yet many children who experience abuse go undetected each year by the medical community as only 10% of the three million child protective services referrals are made from medical providers. Furthermore, one study suggests that 31% of children were seen by a medical provider after experiencing AHT but had not been diagnosed, taking an average of seven days but ranging up to 189 days and two to nine physician visits to be detected. As a pediatric medical community, we must use each encounter with a child to evaluate for suspected abuse. Notrica et al. identify how an unknown number of adults in the home, substance abuse, intimate partner violence (IPV), and prior police involvement each increase the risk for AHT in children under 5 years of age., Asking about each of these factors on intake forms or during encounters is a simple way to improve our understanding of those children at risk for abuse. Furthermore, increased collaboration with our dental colleagues will help increase our detection of child abuse as well as improve children's health. The AAP currently recommends that every child visits a dentist at least every six months. Dentists are thus uniquely primed to detect signs and symptoms of abuse through intraoral radiographs, perioral trauma (frenulum tears, bone or tooth fractures), facial asymmetry, or manifestations of infection (HIV, gonorrhea, and syphilis). Additional safeguards should be established to evaluate a child for abuse and brain injury when a parent is identified to have experienced IPV due to the increased prevalence in this population. While this represents just a few ways to improve our detection, each of these mechanisms can help provide a better understanding of children at risk for abuse and repetitive mild traumatic brain injuries.