Bilateral globus pallidus internus deep brain stimulation for dyskinetic cerebral palsy supports success of cochlear implantation in a 5-year old ex-24 week preterm twin with absent cerebellar hemispheres.

BACKGROUND: Early onset dystonia (dyskinesia) and deafness in childhood pose significant challenges for children and carers and are the cause of multiple disability. It is particularly tragic when the child cannot make use of early cochlear implantation (CI) technology to relieve deafness and improve language and communication, because severe cervical and truncal dystonia brushes off the magnetic amplifier behind the ears. Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) neuromodulation can reduce dyskinesia, thus supporting CI neuromodulation success. METHODS: We describe the importance of the order of dual neuromodulation surgery for dystonia and deafness. First with bilateral GPi DBS using a rechargeable ACTIVA-RC neurostimulator followed 5 months later by unilateral CI with a Harmony (BTE) Advanced Bionics Hi Res 90 K cochlear device. This double neuromodulation was performed in series in a 12.5 kg 5 year-old ex-24 week gestation-born twin without a cerebellum. RESULTS: Relief of dyskinesia enabled continuous use of the CI amplifier. Language understanding and communication improved. Dystonic storms abated. Tolerance of sitting increased with emergence of manual function. Status dystonicus ensued 10 days after ACTIVA-RC removal for infection-erosion at 3 years and 10 months. He required intensive care and DBS re-implantation 3 weeks later together with 8 months of hospital care. Today he is virtually back to the level of functioning before the DBS removal in 2012 and background medication continues to be slowly weaned. CONCLUSION: This case illustrates that early neuromodulation with DBS for dystonic cerebral palsy followed by CI for deafness is beneficial. Both should be considered early i.e. under the age of five years. The DBS should precede the CI to maximise dystonia reduction and thus benefits from CI. This requires close working between the paediatric DBS and CI services.

Neonatal Abstinence Syndrome: Twelve Years of Experience at a Regional Referral Center.

Infants exposed to opiates antenatally display withdrawal symptoms after birth referred to as neonatal abstinence syndrome (NAS).A total of 366 newborns (166 females, 10 twins) from 361 mothers were diagnosed with NAS from 2000 to 2011 at a single large metropolitan referral center.Retrospective chart review of all newborn infants exposed to opiates in utero.20% were premature (gestational age<37 weeks), 32% were small-for-gestational-age (<10th percentile). 70% of infants (195/278) antenatally exposed to methadone (racemic methadone or levomethadone) required pharmacological treatment for 11 (1-55) days (median; range); however, 45% of infants (28/62) exposed to buprenorphine required pharmacological treatment for a median of only 5 (1-20) days (p=0.014). Pharmacological treatment of infants with phenobarbital (n=189) took a median of 9 (1-53) days, but treatment with morphine (n=39) took 19 (3-55) days (p<0.001). The median duration of hospitalization increased from 11 days in 2000-2004 to 19 days in 2008-2011 (p<0.001). The increased durations of neonatal hospitalization were associated with similar increases in the average dosages of maternal methadone.Use of buprenorphine, rather than methadone, for treatment of opiate-addicted pregnant women is associated with fewer and shorter neonatal withdrawal symptoms. The duration of hospitalization and treatment for NAS has increased over time.

The unmet concerns of twins with special needs: diagnostic challenges and service recommendations.

The quality of services provided to families of twins with special needs [SPNs] was examined in a US-based study. Participants included 30 parents with monozygotic (n=8) or dizygotic (n=22) twin pairs. Parents completed questionnaires containing quantitative and qualitative components addressing the circumstances and challenges surrounding their twins' diagnoses. Areas of unmet concerns included contact withother parents, respite care and grief counseling. Beneficial services included early interventions (e.g., occupational and physical therapy). Several resources were identified as not providing sufficient benefit (e.g., inadequate state resources). These findings underline the need to improve methods by which knowledge and support are disseminated to parents regarding diagnostic information and service availability. Practitioner and service recommendations are provided.

Duration of fertility after fresh and frozen ovary transplantation.

OBJECTIVE: To evaluate the function of human ovarian transplants. DESIGN: Follow a series of fresh ovarian transplants for up to 5 years, and compare fresh and frozen ovarian tissue transplantation. SETTING: Tertiary referral community hospital. PATIENT(S): Nine women with premature ovarian failure who received an ovary donated from a monozygotic twin sibling, and 16 young cancer patients undergoing ovarian cryopreservation. Two of the transplant recipients were cancer survivors rendered sterile by their therapy. INTERVENTION(S): Fresh ovary transplantation between monozygotic twin sisters, as well as transplantation of previously frozen ovarian tissue, and study of cryopreserved tissue in cancer patients. MAIN OUTCOME MEASURE(S): Return of normal menstrual cycling, hormone levels, pregnancy, healthy babies, duration of transplant function, and ovarian tissue evaluation. RESULT(S): Normal serum FSH and regular menstrual cycles returned by 5 months after surgery in all cases, both fresh and frozen. Fourteen spontaneous pregnancies were established leading to eight healthy live births and two healthy ongoing conceptions. All three frozen tissue transplants conceived spontaneously, one delivered, and two were ongoing. Oocyte survival with slow freezing was 42% and after vitrification 89%. CONCLUSION(S): Ovarian transplantation in humans is a robust procedure, even after cryopreservation, and vitrification might prove to be more effective than slow freezing.

Brief report: comparative ABA and DIR trials in twin brothers with autism.

Trial interventions in DIR and ABA with twin brothers with autism were offered to help the parents choose one of the programs for their sons. Pre- and post-test scores on the Communication and Symbolic Behavior Scales (CSBS) revealed a slight gain in the composite score of the ABA child and a slight loss in the score of the DIR child. Contrasted gains and losses occurred in six of the seven CSBS clusters. Results from this pilot research are discussed with additional communication and behavior data from the intervention period. Careful interpretation of CSBS outcomes in counseling parents and graduate students is strongly advised. Continued research in comparative outcomes for intervention programs is strongly encouraged.

Genetics and alcoholism: how close are we to potential clinical applications?

Rapid advancement of genetic knowledge has provided a wealth of data demonstrating a significant contribution of genes to the development of alcoholism but has suggested little in the way of clinical applicability. Twin and adoption studies suggest that 50% to 60% of the development of alcoholism is due to heritable factors, and linkage and association studies have identified chromosomal regions and individual genes that likely contribute to the development of this condition. Most of these genes are related to neurotransmitter systems and to alcohol metabolizing enzymes. We briefly review the evidence for this before discussing intermediate phenotypes of alcoholism under genetic control, pharmacogenetic aspects of alcoholism treatment, and the possibility of future clinical applications based on these areas.

Is Swedish snus associated with smoking initiation or smoking cessation?

Nicotine replacement therapies (NRT) are an effective treatment for tobacco dependence, yet most smokers do not quit or remain abstinent. We investigated whether Swedish snus (snuff) use was associated with smoking cessation among males participating in a large population based twin study in Sweden. Snus use was associated with smoking cessation but not initiation. Given that snus delivers comparable nicotine concentrations but carries lesser cancer risk than cigarettes, snus may be a widely used, non-medical form of NRT. Evaluation of the efficacy of snus for smoking cessation should be evaluated in randomised clinical trials.