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Report on Research on Rare Diseases in Children: FY 2000 to FY 2005

Warren Grant Magnuson Clinical Center (CC)

Overview of CC Rare Diseases in Children Research Activities, FY 2000–FY 2005

Clinical Research Support for Pediatric Patients - Warren Grant Magnuson Clinical Center, NIH

The CC, which opened in 1953, is the clinical research facility that provides the venue for translating the basic science discoveries and scientific advances made at the benches and laboratories of NIH Institutes into clinical medicine. The CC is a hospital entirely dedicated to clinical research. The mission of the CC, as a national resource, is to provide the protocol-specific patient care, services, training, and environment needed to initiate and support the clinical research sponsored by individual NIH Institutes. Of the 19 NIH Institutes, 15 have clinical programs that involve clinical research activities in the CC. The scope of care provided in the approximately 1,000 active clinical protocols ranges from acute, intensive medical care to studies of patients who have bipolar disorder, schizophrenia, depression, or other behavioral illnesses. General areas in which ongoing studies are active include: medical, surgical, and pediatric oncology, medical genetics, endocrinology, rheumatology, nephrology, infectious diseases, hematology, cardiology, ophthalmology, otolaryngology, immunology, allergy, gastroenterology, neurology, neurosurgery, dentistry and oral surgery, alcohol dependence, gerontology, pulmonology, psychiatry and psychology, rehabilitation medicine, and imaging sciences.

The CC, in collaboration with Institute investigators and staff, provides comprehensive support for pediatric patients admitted to participate in clinical research protocols. The centerpiece of this support is the CC Pediatric Service. This program provides house-wide inpatient and outpatient pediatric consultative support for patients. The CC's inpatient and outpatient pediatric programs provide family-centered care (See Table 1). Children and families are provided with age-appropriate education, health promotion, and physical and emotional support. Nurses experienced in the care of children and their families staff both units. Recreational therapy, art therapy, social work assessment, dietary evaluation and nutritional support, spiritual ministry, and a schoolteacher all contribute to making the hospitalization of a child as comfortable as possible for the child and the family. The delivery of comprehensive pediatric clinical care is provided by the departments of Rehabilitation Medicine, Critical Care Medicine, Nursing, Social Work, Transfusion Medicine, Laboratory Medicine, Pain and Palliative Care, Imaging Sciences, Spiritual Ministry, and Nutrition. In addition to the clinical support provided, many of these departments provide extensive research support for Institute investigators.

Pediatric patients and, in particular, children with rare diseases and/or children requiring extended hospitalizations, have unique care requirements. To ensure that these needs are adequately addressed, the CC, partnering with the NIH community and the private sector, has implemented a variety of services and programs designed to meet the complex social, emotional, and educational needs of our pediatric patient-volunteers.

The Rehabilitation Medicine Department provides recreational therapy to all CC patients. Art therapy, arts and crafts programs, library services, recreational field trips, and pet therapy are available to all of our pediatric patients, as appropriate.

In June 1990, The Children's Inn at NIH opened its doors to receive pediatric patients and their families. The Inn, set on two acres of wooded land on the NIH campus, was funded by a generous gift from Merck & Co., Inc. The Inn offers the comforts of a friendly, home-like environment that facilitates the family unity necessary to support sick children. During the past 10 years, more than 4,000 seriously ill children and their families have made 23,265 visits to the Inn. Amenities of the Children's Inn include private guest rooms (including facilities for families with assistance animals), a children's library, communal kitchen and dining facilities, family entertainment areas, a computer room, quiet rooms, and an outdoor playground and walking paths. This facility offers the patients and their families a place to retreat from the rigors of treatment and therapy.

Through the Starbright Foundation, the CC's youngest patients now have new worlds to explore. Starbright World is a private interactive computer network designed for hospitalized children and teenagers. Steven Spielberg envisioned this escape for kids, hoping to create a haven and tool to help children cope with illness. The Foundation provided four computer units for the Clinical Center. Programming includes games, videoconferencing, specialized chat rooms, and interactive multimedia programs that help explain common medical procedures.

To ensure that a child's education is not interrupted during participation in a clinical research study, the CC, through an arrangement with the Montgomery County, Maryland school district, provides in-hospital instruction to all pediatric patients, as appropriate. Instructors from the school district's Home and Hospital Instruction Service staff this program. The school's goal is to maintain the continuity of education between the student's home school and the NIH children's school.

Providing exceptional care and services to patients enrolled in clinical research studies is the CC's mission. Providing this care to pediatric patients requires the development and implementation of programs to meet the special and complex needs of ill children. The CC, working with Institute colleagues, patients, and public and private partners, continually strives to meet the needs and expectations of our pediatric patients and their families.

Table 1. Selected Pediatric Diseases Studied at the Clinical Center




HIV infection


Acute lymphoblastic leukemia


Diffuse non-Hodgkin's lymphoma


Metastatic brain tumors




Xeroderma pigmentosum


Cockayne syndrome








Uveitis associated with juvenile rheumatoid arthritis


X-linked severe combined immunodeficiency (XSCID)


Primary immunodeficiency diseases


Attention deficit hyperactivity disorder (ADHD)


Obstructive hypertrophic cardiomyopathy (HCM)


Severe aplastic anemia


Autoimmune lymphoproliferative syndrome (ALPS)


Invasive mycoses


X-linked hyper IgM syndrome


Chronic granulomatous disease


Hyper IgE-recurrent infection (Job's) syndrome


Leukocyte adhesion deficiency


Interferon-gamma receptor deficiency


Childhood idiopathic inflammatory myopathies


Osteogenesis imperfecta (OI)


Congenital adrenal hyperplasia




Turner syndrome


Chediak-Higashi syndrome


Short stature


Familial isosexual precocious puberty


LHRH analog-resistant precocious puberty


Idiopathic juvenile osteoporosis


Smith-Lemli-Opitz (SLO) syndrome


Infantile neuronal ceroid lipofuscinosis


McCune-Albright syndrome (MAS)


Autoimmune neuropsychiatric disorders associated with streptococcal infections


Atypical neuroleptics


Attention-deficit/hyperactivity disorder (ADHD)


Sydenham chorea


Bipolar disorder




Leukodystrophies of unknown cause


Porencephaly and stroke




Menkes disease


Lafora disease


Neuronopathic Gaucher disease

Ongoing, New, and Planned Research Initiatives in Rare Diseases in Children - Department of Rehabilitation Medicine

Juvenile Osteoporosis

The diagnosis of osteoporosis in children is rare. Juvenile osteoporosis can develop after long-time steroid use or idiopathically, and can result in back pain and overall decreased endurance. Data collection is ongoing for children diagnosed with osteoporosis and referred to the Department of Rehabilitation Medicine. Clinical evaluations include the back range of motion to determine if back pain is related to decreased motion, manual muscle strength testing, and the 9/12-minute walk test to determine level of endurance to ambulation.

Juvenile Dermatomyositis

Children with juvenile dermatomyositis present with generalized muscle weakness and decreased joint motion due to lack of strength needed to move through the entire range. Data collection for this population has been completed and analyzed for manuscript preparation. Clinical evaluations included the manual muscle test, range of motion, and a functional ability test, the Pediatric Evaluation of Disability Inventory (PEDI). Decreased aerobic capacity and swallowing dysfunction have also been identified in this population.

Juvenile Rheumatoid Arthritis (JRA)

Children with JRA are referred to the Department of Rehabilitation Medicine Department for evaluation on two protocols:

  • Children with JRA/uveitis (an eye condition affecting many children with JRA) are referred to physical therapy for evaluation of their functional abilities on the PEDI, gait parameters using the stride analyzer, and hand function using the Jebsen hand test.

  • Children with JRA are referred to physical therapy for evaluation of their functional abilities using the PEDI, gait parameters using the stride analyzer, and walking endurance using the nine-minute walk-run test.

Osteogenesis Imperfecta (OI)

OI is a heritable type I collagen disorder associated with brittle bones, muscle weakness, and short stature. Infants and children with OI types III and IV are referred to the Department of Rehabilitation Medicine for assessment of their gross motor performance level using the Brief Assessment of Motor Function (BAMF) and the Peabody Developmental Motor Scales (PDMS); level of independence using the Childhood Health Assessment Questionnaire (CHAQ); daily activity using the Pediatric Activity Record (PAR); and self-perceived competence using the Harter scales. A study of children's temperament in relation to motor performance has been completed. A study of resilience as a potential influence on performance is under consideration.

Smith-Magenis Syndrome (SMS)

SMS is a deletion of the 17p11.2 chromosomal disorder characterized by dysmorphic facial features, brachydactyly, short stature, hypotonia, self-hugging behaviors, speech delays with and without hearing loss, ranging degrees of cognitive deficits, peripheral neuropathy, scoliosis, sleep disturbances, and self-injurious behaviors. Sensorimotor and functional evaluations administered by the Department of Rehabilitation Medicine would provide information related to the physical/sensorimotor and behavioral characteristics seen in children with SMS. This protocol is scheduled to begin in June 2001.

A comprehensive battery of evaluations such as the PEDI, the Sensory Profile, the PDMS-2, and the BAMF will enhance the natural history protocol and provide additional information for descriptive research in the areas of sensorimotor skills and functional abilities in children with SMS. This will provide more comprehensive data to delineate and characterize the physical, cognitive, and neurobehavioral abnormalities currently being studied in children with SMS.

Ongoing Research Protocols - Speech-Language Pathology Section, Department of Rehabilitation Medicine

Smith-Lemli-Opitz (SLO) Syndrome

The Speech-Language Pathology Section is actively involved in this protocol designed to assess oral sensory motor development, feeding and swallowing abilities, and speech characteristics. Assessments are conducted on each patient visit to the Clinical Center and consist of:

  • Speech pathology pediatric swallowing questionnaire.

  • Oral-sensory motor evaluation.

  • Clinical feeding assessments.

  • Videofluoroscopic study of swallowing function.

  • Evaluation of speech-language development.


This protocol was recently approved by the Internal Review Board, and patient accrual was anticipated beginning in April 2001. Past experience with this patient population includes the study of 12 children documenting oral sensory motor, swallowing, and speech and voice characteristics. Findings included observance of laryngeal pathology in approximately 90% of the population studied, along with several oral sensory motor findings such as open mouth posturing, decreased lingual range of motion and strength, oral hypersensitivity, and clinical feeding and swallowing difficulties.

The procedures for the upcoming protocol will include the following:

  • Feeding and swallowing questionnaire completed by parent (21-item questionnaire assessed with 4-point rating scale).

  • Clinical feeding and swallowing evaluations (4-point rating scale of oral pharyngeal swallowing behaviors).

  • Oral sensory motor examination (clinical evaluation oral sensory motor function by cranial nerve. Assessed on a 4-point rating scale [1=normal, 2=mild, 3=moderate, 4=severe]).

  • Digital audio tape recording of child's voice, articulation, and speech patterns.

  • Computer speech laboratory analysis of voice fundamental frequency, intensity, and parameters.

  • Speech parameters scale (assessed with a 4-point rating scale of speech and voice parameters).

  • Assessments of resonance and laryngeal function with flexible nasoendoscopy and videostroboscopy.


Assessments include:

  • Oral sensory motor evaluation.

  • Swallowing questionnaires.

  • Oropharyngeal ultrasound of swallowing.

  • Videofluoroscopic evaluation of swallowing functions.

Stickler's Syndrome

This is a research study assessing oral sensory motor, speech/voice, and swallowing functions of family members diagnosed with Stickler's syndrome.

The testing battery consists of:

  • 21-item swallowing questionnaire.

  • Oral sensory motor evaluation by cranial nerve function.

  • Oropharyngeal ultrasound.

  • Digital audio tape recordings and vocal analysis.

  • Endoscopic evaluation of the velopharyngeal port.

  • Videostroboscopic evaluation of laryngeal function.

  • Speech parameters ratings.

Gaucher Disease

Patients are seen clinically in this protocol for assessment of oral sensory motor and swallowing abilities.

Mucolipidosis type IV

Patients are seen in this protocol to document the natural history of oral sensory motor, speech, and swallowing functions of children with mucolipidosis type IV.


Patients are seen clinically in this protocol for assessment of oral sensory motor and swallowing abilities.

Sydenham's Chorea

Patients are seen for evaluation of oral sensory motor abilities, swallowing function, and documentation of speech characteristics. Assessments also include videofluoroscopic evaluation of swallowing.

Carbohydrate Glycoprotein Deficiency Syndrome

Evaluations include:

  • Assessment of oral sensory motor abilities.

  • Clinical feeding and swallowing function.

  • Speech-language development and communication abilities.

Fibrous Dysplasias

Clinical assessments of speech and swallowing function are conducted, assessing the impairment level of speech, language, and swallowing function to facilitate therapeutic interventions and education planning in these children.

Additional Funding Information

The CC is able to project funding for the current and immediately upcoming programs and initiatives in which it participates. Projected funding for future activities depends upon the funding mechanisms and plans of the NIH Institutes and Centers (ICs) with which the CC collaborates on research initiatives and programs.


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Last Reviewed: February 1, 2005
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