Intrathecal baclofen therapy after liver transplant in a patient with Crigler-Najjar syndrome.

Crigler-Najjar syndrome (CNS) is described as severe infantile, nonhemolytic, unconjugated hyperbilirubinemia and is divided into type I and type II according to the patient's response to phenobarbital treatment. Patients with type I CNS usually require a liver transplant. These patients often have spasticity and dystonia, both of which can be treated with intrathecal baclofen therapy. We present the case of a patient with CNS type I who underwent a liver transplant followed years later by intrathecal baclofen therapy. To our knowledge, this article provides the first report of a patient with CNS being treated for dystonia with an intrathecal baclofen pump. Despite his complicated history, this patient has remained medically stable after both interventions.

Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen.

Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous family of diseases characterized by high brain iron, particularly in the basal ganglia. The most common manifestation of childhood NBIA is classic pantothenate kinase-associated neurodegeneration (PKAN), a severe, progressive type of autosomal recessive neuroaxonal dystrophy characterized by early onset of symptoms (as opposed to atypical PKAN, with an average age of onset of 14 yrs). There is currently no established therapy for the disease. Intrathecal baclofen has been reported to improve ease of care and dystonia in patients with PKAN. Deferiprone, an iron chelator, has been shown to be safe and tolerable in patients with PKAN as well as effective in reducing brain iron accumulation, as measured by magnetic resonance imaging. This case report highlights the potency of combining intrathecal baclofen and oral deferiprone in a patient with classic PKAN. Although treatment with deferiprone alone was not attempted, this combination therapy seems to be more efficacious than treatment with only intrathecal baclofen.

The rehabilitation of children with anti-N-methyl-D-aspartate-receptor encephalitis: a case series.

Anti-N-methyl-D-aspartate (NMDA)-receptor encephalitis is a serious, complex, and potentially fatal disease in children. Children with this condition frequently present with altered mental status, rapid functional deterioration, and seizures. Despite aggressive treatment with immune therapy such as corticosteroids, intravenous immunoglobin, and plasmapheresis, children often need extensive rehabilitative services and can be left with lasting deficits. In this case series, we report on six known consecutive pediatric cases of N-methyl-D-aspartate-receptor antibody encephalitis in Northern California requiring comprehensive inpatient rehabilitation. The children presented with a variety of symptoms and had waxing and waning clinical courses. All children progressed well through their rehabilitation programs but were discharged home with persistent functional deficits. At follow-up, all but one child had lasting deficits. Because of the complicated management and extensive rehabilitation needs of children with anti-N-methyl-D-aspartate-receptor encephalitis, physiatrists and other rehabilitation providers should be knowledgeable about this complex condition.

Pediatric brain tumor rehabilitation.

Children with brain tumors experience significant functional deficits related to the primary disease process and also as a consequence of its treatment. As in adults, childhood brain tumors represent a heterogeneous group of tumors, which vary in pathologic characteristics, tumor biology, response to therapy, anatomic location, and age at diagnosis. With the advances in diagnostic strategies, neurosurgical techniques and therapeutic trials over the last 30 years, a greater proportion of these children are surviving into adulthood. Accompanying this survival, knowledge and intervention regarding long-term effects and the consequences of functional deficits on independent living is necessary. Involvement of a pediatric physiatrist throughout the course of disease, from diagnosis through survivorship, assists in optimizing functional independence and quality of life for children with brain tumors.

Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses.

The mucopolysaccharidoses (MPS) are a common cause of carpal tunnel syndrome (CTS) in children and adolescents. As the MPS diseases are progressive in nature, it is essential that CTS in these children is readily diagnosed and treated, before damage to the median nerve becomes irreversible. Currently, no standards for diagnosing and treating CTS associated with MPS exist. Proper diagnosis of CTS generally involves the assessment of clinical signs and symptoms, in combination with nerve conduction studies. As the clinical signs and symptoms of CTS described for adults are often absent in children with MPS, early diagnosis of CTS in these children requires recognition of subtle findings such as decreased sweating, nocturnal waking, gnawing of hands, and manual clumsiness. Sensory tests could also be useful for detecting early CTS when the integrity of the nerve is still relatively intact. Nerve conduction velocities, which are the gold standard for diagnosing CTS, can be difficult to perform in patients with MPS and should be adapted to the patients' clinical characteristics such as their abnormally small hands and young age. Ongoing monitoring for CTS is indicated for all MPS patients, including those treated with hematopoietic stem cell transplantation or enzyme replacement therapy.

Outcomes of post-acute hospital episodes for young children requiring airway support.

In this descriptive study, we examined changes in invasive and non-invasive airway support; studied the rates of home discharge vs. long-term care or acute hospitalization; and examined the relationship between the level of airway support and discharge to home for 92 children (<3 years of age) with 104 admission-discharge episodes to a consortium of pediatric rehabilitation hospitals over a one-year period. We found a significant reduction (p < 0.001) in the level of airway support between admission and discharge. In 21 of 47 (45%) episodes, children weaned from mechanical ventilation to a less restrictive type of support. Sixty percent of the children had final discharges to home. There was a significant, though fair correlation (Spearman Rho = -0.344, p = 0.001) between home discharge and level of airway support. These outcomes data provide a multi-site baseline for understanding expected changes in airway support and home discharge rates of young children who are admitted to a post-acute inpatient program.

Ventilator weaning outcomes in chronic respiratory failure in children.

The purpose of this study was to describe mechanical ventilation weaning outcomes for children with chronic respiratory failure discharged from one of six post-acute rehabilitation facilities. Demographic, clinical and outcome data were collected from the medical record. Forty-four children were included in this prospective series; 20 (45%) were weaned off the ventilator at discharge. Children required significantly lower levels of ventilatory support at discharge than admission. Hourly use on the ventilator decreased from admission to discharge for the full cohort and for the subgroup who required a ventilator at discharge. Seventy-five percent of the children discharged with a ventilator had a portable unit. We conclude that nearly half of the children using mechanical ventilation achieve weaning during a postacute rehabilitation admission, whereas others have positive outcomes in severity, hours off the ventilator or portability of equipment.

Adolescent sexuality and disability.

Regardless of what our beliefs about sex and disability may be, as health care providers we can promote the health and well being of our patients with disabilities in several ways. First and perhaps foremost, physical and programmatic barriers to accessing general health care including routine gynecologic care must be dramatically reduced. The promise of Title III of the Americans with Disabilities Act must be aggressively extended to our health care system to ensure equal access to routine health care for all. Second, knowledge of community resources that can support the healthy development and exercise of responsible and satisfying sexuality is critical. For example, health care providers should know about adaptive and assistive technologies as well as the use of personal care assistants to support the healthy although sometimes nontypical expression of one's sexuality. Centers for Independent Living are community resources that are often underutilized by the medical profession. These centers--run by and for people with disabilities--are likely resources and allies for providing education, role models, and peer mentoring around relationships, intimacy, sexuality, sexual expression, and parenting with a disability. Finally, sex education is a must and should include the following: Basic facts of life, reproduction, and sexual intercourse; Human growth and development Human reproduction and anatomy Self-pleasuring/masturbation and the use of sexual aids Intimacy and privacy Pregnancy and child birth Contraception and abortion Family life and parenthood Sexual response and consensual sex Sexual orientation Sexual abuse HIV/AIDS and other sexually transmitted diseases. The question should not be whether sex education is provided to persons with disabilities, but rather how it is most effectively provided. Health sex education must include the development of effective communication skills, decision-making skills, assertiveness, and the ability to say "no." It must also include ways to create satisfying relationships. For more information about sex education as it relates to people with disabilities, the following abbreviated resource list may be helpful: http://www.sexualhealth.com http://www.lookingglass.com Ludwig S, Hingsburger, D. Being sexual: an illustrated series on sexuality and relationships. SIECCAN, 850 Coxwell, Aven., East York, Ontario, M4C 5R1 Tel: 416-466-5304; Fax: 416-778-0785. Sexuality Information and Education Council of the United States (SIECUS), 130 West 42nd Street, Suite 350, New York, NY 10036. Tel: 212-819-9770. National Information Center for Children and Youth with Disabilities (NICHCY), P.O. Box 1492, Washington, DC 20013; Tel/TTY: 800-695-0285; Fax: 202-884-8641; Internet: www.nichcy.org Non-Latex Supplies (Ask your pharmacist if not available) Trojan-Supra: http://www.trojancondoms.com Durex-Avanti: http://www.durex.com Female Health Company-FC Female Condom http://www.femalehealth.com Pasante--EzOn http://www.postalcondoms.co.uk (available in Canada and U.K.).