Treats a variety of pediatric skin conditions from genetic skin disorders to infectious and noninfectious skin conditions, including laser interventions. Algorithm for Skin & soft Tissue Infection in Pediatric Patient Over 3 Months at https://intermountainhealthcare.org/ckr-ext/Dcmnt?ncid=527740063. 

Autism, reside in Utah

Through the Autism Systems Development Program, the CSHCN Bureau provides leadership that brings together many of the agencies and advocates who influence the statewide system of services for children with autism spectrum disorder (ASD) and their families.

The program has four components: Utah Autism Initiative (UAI), Utah Registry of Autism and Developmental Disabilities (URADD), Data System Integration, and ASD Resource Management. The ASDP:
- Refers individuals with ASD to services for evaluation and treatment
- Refers to care coordination programs
- Updates ASD diagnostic providers list
- Updates ASD treatment resources list
- Expands previously conducted ASD services survey to assess service needs and identify
barriers for care across Utah
- Compiles annual report summarizing ASD needs in Utah

See related report at https://www.cdc.gov/ncbddd/autism/states/addm-utah-fact-sheet.pdf. 

Colin Kingsbury, Program Manager
M - F 8 - 5
Statewide

Requests for referrals should be initiated by contacting Dr. Bonkowsky (joshua.bonkowsky@hsc.utah.edu) or Emily Hardy (emily.hardy@hsc.utah.edu or 801-213-7701).

Provides evaluation, diagnosis, and treatment of inherited leukodystrophies (including adrenomyeloneuropathy) for:

• prenatal and pregnancy counseling,
• newborns,
• children,
• adolescents, and
• adults

If families are interested, they can enroll in the Western Leukodystrophy Project, one of the largest longitudinal studies of children with leukodystrophies.

The Leukodystrophy Clinic is also a Leukodystrophy Care Network Certified Center, meeting or exceeding the Criteria for LCN Center Certification.

Josh Bonkowsky, MD, PhD

See website or contact for additional provider names and specialties. All providers may not provide all services.

Provides personalized genetic therapies and therapy development, including rapid genetic testing and research on whole genome sequencing.

Initial efforts are focused on providing answers to critically-ill infants in the newborn intensive care unit, and children with severe seizures and heart conditions.

Josh Bonkowsky, MD, PhD, Medical Director

Addresses the health, safety, and well-being of all infants, children, adolescents, and young adults. See also Prevention of Pediatric Overweight and Obesity at https://publications.aap.org/pediatrics/article-abstract/112/2/424/63348/Prevention-of-Pediatric-Overweight-and-Obesity?redirectedFrom=fulltext.

Provides mental health information on the following topics: getting help, statistics, clinical trials, outreach, research, opportunities for funding, and labs at NIMH. Provides links to descriptions of clinical trials, related to numerous mental health conditions, including ADHD, anxiety, and depression.

Works to cure cystic fibrosis and provide all people with CF the opportunity to lead long, fulfilling lives. Conducts research on cystic fibrosis.

The CF Foundation funds research and drug development and provides CF-related resources for families and medical providers.

[https://www.cff.org/Assistance-Services/About-Compass/What-Is-Compass/ Compass] is a personalized one-on-one service to help with the insurance, financial, legal, and other issues faced by people living with CF, their families, and their care teams.

The [https://www.cff.org/ccd/ CF Care Center] finder is a web-based location finder for cystic fibrosis accredited care centers nationwide. The Cystic Fibrosis Foundation provides funding for and accredits more than 110 cystic fibrosis care centers and 55 affiliate programs nationwide, including 96 programs for treating adults with CF.

Provides resources and support for individuals and families living with Angelman Syndrome. Offers a Family Resource Team to help find needed resources; educational programs and Angelman Syndrome Resources. 

Angelman Collaborative Research Partnership- notes two studies, one related to identifying biomarkers that could be used to assess the effects of drugs on AS and the other evaluating measures and technologies related to problems areas such as sleep, communication, and brain activity.

Angelman Syndrome Foundation Contact Registry- asks for contact and demographic data for individuals with Angelman syndrome and their families so they can: notify potential participants about Angelman research trials and alert families about recent events and research findings.

Persons with a rare disease and in financial need.

Provides assistance programs to help patients obtain life-saving or life-sustaining medication they could not otherwise afford. Programs provide medication, financial assistance with insurance premiums and co-pays, diagnostic testing assistance, and travel assistance for clinical trials.

Provides information about Fabry disease, research and clinical trials information, funding programs, and more. See Recommended Schedule of Assessment at https://www.fabrydisease.org/images/ReferencePDFs/fabry-registry-schedule-of-assessments.pdf. Programs, include:

• Annual conference
• Family camp
• Personal support
• Research and educational information

Provides the latest medical information, aggressively funding the most promising research, offering meaningful support, raising public awareness and advocating for all living with Rett syndrome. Lists resources and clinics by state, national resources, and clinical trials. Resources include: Care Guides, Communication, Adaptive Equipment and Funding, School and Day Programs, Adolescence, Planning for the Future. Includes research about the condition and medication trials.

A family support organization that exists to ensure early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome, and help people with a diagnosis of CdLS, and others with similar characteristics, make informed decisions throughout their lives. Toll free help lines, Ask the Expert emails, Connect with a Family, and more. Provides research studies, see https://www.cdlsusa.org/participate-in-research/.

Additional Family Resources: Medical Cards, Family Map, CoRDS Registry, CdLS Discussion Board

M - F 8:30 - 5 ET

Promotes quality health care for all children and youth, particularly those with special health care needs. Working with family leaders and professional partners at the local, state, regional, and national levels since 1992, Family Voices (a family-led organization) has brought a respected family perspective to improving health care programs and policies and ensuring that health care systems include, listen to, and honor the voices of families. See Family-Centered Care Self-Assessment Tool at http://familyvoices.org/wp-content/uploads/2014/06/fcca_FamilyTool.pdf.

Family Voices does not provide financial aid and is not a direct service provider. Contact Family Voices in your state.

Available to all.

NAMI, the National Alliance on Mental Illness, is the nation’s largest grassroots mental health organization dedicated to building better lives for the millions of Americans affected by mental illness. Provides information about NAMI groups in all states, updated information about illnesses and medications, and sends out literature. Provides information about pros and cons on participating in research studies, how to protect rights as a participant.

Ending neurofibromatosis through research. Patient Engagement program, meaning the inclusion of patient representatives in NF research, and the view that people with NF are not just subjects, but are health care consumers who have a role in managing their care, directing their health outcomes, and accelerating therapies for the entire NF community. A NF Clinic Network by state. Provides a registry for all types of NF (including NF1, NF2, and schwannomatosis).

NF Camp is the annual summer camp of the Children's Tumor Foundation, dedicated to teens and young adults living with neurofibromatosis (NF). For over 20 years we have hosted this week-long experience for teens and young adults ages 12 to 25. NF Camp takes place on the third or fourth week of July (6 nights/6 days) in Salt Lake City, Utah. Application on CTF website.

Provides support and connections in the myotonic dystrophy community, resources, advocacy, and research toward treatments and a cure.

Services Include:

• A digital library of educational videos
• Study and Trial Resource Center
• Find a doctor nationwide locator
• Support groups, including a virtual group

Provides support and resources to improve the lives of people with tuberous sclerosis complex (TCS). Website identifies TSC Clinics, a TSC Clinic Screening Tool, and a locator for local resources. Conducts research on cerebral palsy.

Undiagnosed Diseases Network (UDN) is a research study that seeks to provide answers for patients and families affected by mysterious conditions. Clinical sites located throughout the U.S.

Provides a database to find a pediatric ophthalmologist (a medical and surgical doctor who specializes in eye problems of children).

Protects America from health, safety, and security threats, both foreign and within the U.S. Conducts critical science and provides vital information that protects the nation against dangerous health threats, and responds to emergencies when they arise. Visit website for the most up to the minute information on COVID-19.COVID-19 UPDATE: The Vaccine Finder website is a free, online service where users can search for locations that offer vaccinations. The Website was developed by CDC and partners such as clinics, pharmacies, and health departments to provide accurate and up-to-date information about vaccination service. There is now a texting option and Hotline number in both English and Spanish for finding a vaccine. The Hotline number is in place to ensure that people who aren't online (as well as people who don't speak English or Spanish) have access to all the information they need.

• Communicable Disease Control
• Vaccine Information

• Clinical Trials
• Specialized Information and Referral
• Disease/Disability Information

Works with research partners from all over the world to engage families and adults with autism in research studies. All of the studies are evaluated for scientific merit, and a SPARK scientific committee approves them. SPARK matches participants with research studies based on characteristics such as age, diagnosis, medical history, location and more. Some of these studies are online, and some are in person.

SPARK does not share any information with researchers until participants give their permission. Participants in SPARK are always in control.

Simons Foundation Powering Autism Research for Knowledge (SPARK)

Online medical information resource directs to information to help answer health questions. Information on drugs displays an illustrated medical encyclopedia, interactive patient tutorials, and latest health news. Provides information about conditions including homocystinuria.

Contact for specific information.

NIDDK research creates knowledge about and treatments for diseases that are among the most chronic, costly, and consequential for patients, their families, and the Nation. Offers clinical trials, financial assistance for researchers, health information, and publications.

Provides awareness, education, and research to support families living with Fragile X. Provides a patient and family registry plus a longitudinal database populated by clinician- and parent-reported data from individuals living with FXS.

Improving lung health and preventing lung disease through Education, Advocacy and Research. With the generous support of the public, we are "Fighting for Air." Provides asthma research.

Individuals with spinal muscular atrophy (SMA)

Funds and directs comprehensive research that drives breakthroughs in treatment and care, and provides families the support they need. Local and national programs.

Services Include:

• An equipment pool loans medical equipment free of charge
• Annual conference
• Web-based location finder for support in your area

Supports research initiatives and facilitates education programs that increase professional awareness and enhance medical care of those affected by Turner syndrome. See Laboratory Guideline for Turner Syndrome at https://www.nature.com/articles/gim20108.

Provides leadership and direction to programs designed to improve the health of the Nation by conducting and supporting research.

Services Include:

• Information Clearinghouses 
• Clinical Research resources

Provides education for families in identifying development milestones in children from birth to 5 years old. Provides resources and supports (WIC, Early Childhood Intervention, Home-visiting, and Education Materials) for families who may have concerns and how to reach out to a local healthcare provider. See the Pediatric Developmental Screening Flowchart at https://www.cdc.gov/ncbddd/autism/documents/Screening-Chart.pdf .

Adolescents (ages 14-20) must have lost a minimum of 10 pounds as teenagers and maintained this weight loss for at least 1 year.

Provides a questionnaire and interview study to learn more about adolescent weight loss and maintenance. Adolescents will complete questionnaires and a brief interview regarding their weight loss experience. Parent participation is also encouraged, but not required. Adolescents and parents will be compensated for their time.

Provides listing of clinical trials including Angelman syndrome; anxiety in children; argininosuccinic aciduria; arginase; auditory brinstem implants in children and adolescents, biotinidase deficiency in children and adolescents, brain injuries in children; cerebral palsy; continuous positive airway pressure (CPAP); celiac disease in children; childhood absence epilepsy; childhood absence epilepsy initial treatment; childhood hearing loss; childhood adolescent miagraine prevention study (CHAMP); children and adolescents with MPS I; children with Tourette syndrome; postural orthostatic tachycardia syndrome (POTS); 22q11.2 deletion syndrome; hearing aids in children, migraine in children; positive airway pressure (PAP) in children; vilazodone in adolescents; levomilnacipran in adolescents; preterm infants; attention deficit hyperactivity disorder (ADHD); BH4/tetrahydrobiopterin; Charcot-Marie-Tooth; children with asthma; congenital hypothyroidism; Duchenne muscular dystrohies (DMD); Fabray; intellectual disabilities; myotonic type 1; neurofibromatosis (NF1); Pompe disease; and short-chain acyl-CoA dehydrogenase deficiency (SCHAD); tracheostomies; hyperphagia in Prader-Wili; XXY (Klinefelter); GERD; TBI; substance abuse; cochlear implants; congenital adrenal hyperplasia; congenital heart disease; cystic fibrosis; depression; MOMS trial for NTD; e-cigarettes; epilepsy; FASD; foster care; fragile X; headache; social determinants of health; infantile spasms; inflammatory bowel disease; ketogenic diet; LCHAD/TFP deficiency; leukodystrophy; MCADD; malonic aciduria; maple syrup urine disease; maternal depression; methylmalonic acidemia; ARPKD/CHF; open/aftercare treatment for participants diagnosed with obsessive-complusive disorder; osteogenesis imperfecta; osteoporosis; otitis media with effusion; PaP; PKU; patient-specific, effective, and rational functional connnectivity trgeting for DBS in OCD; constipation; obesity; Prader-Willi syndrome; predicting treatment response in patients wtih OCD; propionic acidemia; reclaim deep brain stimulation (DBS) therapy for obsessive-compulsive disorder; Rett syndrome; seizures; SCID: sickle cell disease; smoking cessation; somatic symptom and related disorders; spina bifida; spinal cord injuries; spinal muscular atrophy; autism; complementary and alternative medicine; glactosemia; integrative health; pyruvate decarboxylase deficiency; syncope; thin film spectacle coatings to reduce light sensitivity and headaches in child and adolescent patients with migraine; transgender youth; treatment of CMV-related hearing loss; tuberous sclerosis; turner syndrome; type 1 diabetes; tyrosinemia type 1; understanding how ketamine brings about rapid improvement in OCD; very long chain acyl-CoA dehydrogenase deficiency (VLCADD); and others. Type in the term on the home page under "Find a study."

Conducts research on repair of myelomeningocele. Other study locations exist including University of California San Francisco Benioff Children's Hospitals, see https://fetus.ucsf.edu/spina-bifida-moms-trial/. 

Conducts research on cerebral palsy.

Provides information about clinical trials for cerebral palsy, spinal cord injuries, and other conditions.

Conducts research on spinal muscular atrophy (SMA).

Conducts research on smoking, alcohol, and other substances.

Conducts research on Down syndrome.

Provides information about studies for Klinefelter syndrome. See also PMID 20014372.

Funds research, runs scientific meetings, advises pharmaceutical companies, and provides education. Families can reach out to FRAXA for resources, guidance, referrals, and an international community of support.

Provides a registry for rare diseases including Fabry disease, MPS I, and others, regardless of disease type, treatment status, or treatment choice.

Provides a registry to match individuals with Fragile X to studies. Provides database of people who want to be notified about fragile X research studies. It is a free, confidential, convenient way for families to connect with studies and move research forward.

Provides a registry to collect data on individuals with Angelman syndrome (AS) through a series of online surveys to build the largest and most comprehensive global collection of information on AS to date; supported by AS foundations in over 20 countries. 

Provides a shared research infrastructure supports collection and analysis of robust clinical data and biological specimen to pave the way for transformative therapeutic trials across the leukodystrophies.

Provides "Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents" and Students with Chronic Illnesses: Guidance for Families, Schools, and Students.

Accelerates research in myotonic dystrophy and FSH dystrophy by connecting patients with researchers, collecting longitudinal data to track disease progression, and disseminating information to families, researchers, and care providers.

Provides electronic databases which collect, maintain, and disseminate controlled substance prescription information specific to each jurisdiction's laws and regulations.

Provides a place for patients with rare diseases, such as Rett syndrome, MECP2 duplication, Rett-related disorders, and urea cycle disorders. Individuals can register and be contacted about clinical research opportunities and updates on the progress of research projects. The registry is anonymous and free of charge.

Provides information about spinal cord injuries and research. 

Provides research studies for type 1 diabetes.

Participates in the Western Leukodystrophy Project.

Provides research on autism and neurodevelopmental disorders.