Introduction: Dr. Francis Collins, Director of the National Human Genome Research Institute. Dr. Collins noted that HPE is one letter short of spelling HOPE. He challenged the audience to be the "O" team and find the missing letter. Through our collaboration and perseverance we can find hope for our children.
Address to Scientists, Clinicians, and Families: The Honorable William Frist, M.D., U.S. Senator from Tennessee. Dr. Frist is the sole physician in the senate. He has been a champion of supporting the health care needs of our country. He was delighted to come and discuss, listen and learn about the needs and concerns of families, researchers, and clinicians. He is committed to biomedical research and fostering interdisciplinary partnerships.
Hope for Holoprosencephaly: A Parent Perspective: Harold C. Urschel III and Christi Carter-Urschel. When their son was diagnosed with HPE, this family was overwhelmed by the negativity, misinformation, and lack of available resources in the community. They established the Carter Centers to educate families and clinicians, to stimulate research, to devise better treatments, and to find hope for all families with children diagnosed with HPE. The Urschels urged families to be evaluated at one of the Carter Centers, have blood samples evaluated at the NIH, send MRI/CT scans to California, have cognitive assessments performed, and to participate in the registry, database, and parent-to-parent networks. The more data that is evaluated, the greater the hope for improved treatments for and understanding of this condition. The foundation has invested almost $10 million dollars in HPE treatment and research over the last three years. Hal asked for parent support to help seek NIH funding in the near future. He asked families to call and write the NIH and their congressman to support our applications. The applications will focus on looking for new treatments for motor disorders, speech and cognitive delays, new neurogenetic treatments and new neuroimaging studies. Christi encouraged parents to be active and courageous. Never settle and never give up. Parents are the real force in this country to conquer this disorder.
Survival and Performance of Children with HPE: Mason Barr, Jr., M.D., Professor of Pediatrics, Pathology, and Obstetrics, University of Michigan. Dr. Barr and his colleagues have evaluated 62 children with alobar HPE. Compared to children with milder forms of HPE, they found that children with the most severe form of HPE generally had greater medical problems and poorer survival rates. All of the children experienced developmental delays, feeding difficulties, seizure disorders, poor temperature control, sleep disorders, spasticity, poor head control, and hydrocephalus. Half of the children with alobar HPE had died by four months of age but survival beyond seven years was noted for some. He said that, with attention to the associated problems, life could be made easier for the children with some developmental progress and longer survival to be expected. He emphasized that close support of the children and their families is extremely important.
Clinical Observations of Children with HPE: Nancy J. Clegg, Ph.D., National HPE Project Director for the Carter Centers. Dr. Clegg shared the preliminary data on 44 patients in the Carter Center National Database. In this study, more patients were seen with moderate or mild brain malformations (6 alobar, 24 semilobar, 3 lobar, 10 MIHF, and 1 unknown). (Note: MIHF=Middle Interhemispheric Fusion=a new classification for the mildest form of HPE). Children ranged in age from two months old to 19 years old. Only two children had genetic abnormalities. Almost a third of the children had facial deformities and almost half of the children had endocrine problems, especially diabetes insipidus. One-fifth had hydrocephalus, feeding disorders, and behavior problems. One-fourth had difficulty sleeping. Only one-third of the children had epilepsy and two-thirds of these children had good control with medications. Children with alobar and semilobar HPE had more problems with seizure control. Many children had problems with decreased or increased muscle tone making sitting, crawling, and walking difficult. Many children were able to communicate with vocalizations, words, or even in complete sentences. Dr. Clegg talked about the problems often seen and the different treatments used.
Impact of HPE on the Family: Parental Strengths: Barbara B. Biesecker, M.S., Genetic Counselor at the NIH. Having a child with HPE involves a journey of adjustment. The route and destination are often unknown. There are few tour guides on this journey, save for other parents who have experienced similar difficult challenges in their lives. It is a journey with many peaks and valleys. Parents may not have bargained for this journey, it wasn’t what was expected and they may have doubted their strength or ability to make a full adjustment to this challenging parental role. Yet, parents have found strengths they never knew they had, become experts on their children, and have found comfort and hope.
Development of Cognitive & Receptive Language Assessment for Nonverbal Children with Motor Impairment: April Benasich, Ph.D. and Hilary Leevers, D.Phil., Rutgers. The Carter Center staff at Rutgers discussed their efforts to assess the cognitive abilities of children with HPE, monitor their progress, and develop useful intervention strategies. The team has developed assessment tools to evaluate children during a clinic visit. Unlike most tools that require speech, reading, writing, or button pushing, these tests use eye gaze and other methods that require minimal motor skills to assess cognitive development. This tool has been used with children of all ages with a variety of types of HPE. Another tool measures the abilities of nonverbal children with severe motor impairments using a comfortable lightweight cap to measure brain waves. Using brain waves (EEG/ERP’s) they can see how the brain reacts to audio or visual events without depending on a behavioral response or action by the children. The focus of all of the new assessment tools is to see what children are capable of and how to better teach them.
Genetics of HPE: Max Muenke, M.D., Chief, Medical Genetics Branch at the NIH. As a pediatrician and geneticist, Dr. Muenke has been studying HPE for fourteen years. He discussed the importance of a chromosomal analysis and other tests to determine if there are problems with certain genes. He also stressed the importance of a genetic consult to determine if future pregnancies may be affected by HPE or if siblings may pass along problem genes to their children. (Most often, the change is new in the child with HPE and the parents and siblings do not have the problem.) Dr. Muenke also answered individual questions from parents and children.
These presentations were videotaped and are available upon request. For further information, please contact Nancy Clegg, RN, PhD @ The Carter Centers for Brian Research in HPE at <nclegg@tsrh.org> or 214-559-7614.