After Diagnosis

Once the idea of a diagnosis sinks in parents/caregivers typically begin to think about how they can best care for their child.

The following information is being shared with the hope that it might offer some guidance. It is imperative to note that the spectrum of care/disability/ health issues varies within the PND's and the following information may or may not pertain to your child.

This information was gathered from PND families and professionals working with children with PND's. If you have additional information that should be shared please send it to the PND Association at PND@PNDAssociation.org

Setting up your child's team

It is important to think about setting up a team that can help with the care of your child.

Depending on the particular needs of your child this team may include several of the health care professionals following: Pediatric Neurologist, Neurometabolic specialist, Pediatrician, Gastroenterologist, Pulmonologist, Movement Disorder Specialist, Cardiologist, Orthopedic, Endocrinologist, Developmental Specialist, Geneticist, Genetic Counselor, Nurses, Special Ed Teacher, Physical Therapist, Occupational Therapist, Speech Therapist, Feeding Specialist.

No matter what supports are in place this type of care can be overwhelming to a family. It is highly recommended to consider having a case manager and/or social worker involved who has experience with children with special health care needs.

A local children's hospital, state early intervention program or a family voice coordinator www.familyvoices.org can put you in touch with one of these supports.

Specific Care Issues Related to PND's

Movement Disorders - children with PND's have an array of movement disorders. Safety to prevent injury and maximizing physical potential should be primary concerns. Consideration should be given to: PT, OT, proper seating, and adaptive equipment.

Education of the movement disorder to all caregiver/educators is extremely important. Consult with a pediatric movement disorder specialist should also be considered.

Gastrointestinal Issues - many children with PNDs have GI related issues. These can include: reflux, decreased GI motility, feeding difficulties, failure to thrive and aspiration. Consulting a pediatric GI physician/ certified feeding specialist who works with children with neurological diseases can be very helpful.

Some children with PND's do require additional nutritional support (i.e. supplemental feedings, NG/ GT tubes). These decisions can be very difficult for families and additional support is critical.

Behavioral - Some children with PND's particularly SSADH incur behavior issues. This can be extremely difficult for the child and entire family.

Consultation with a behavioral specialist / developmentalist / neuropsychiatrist may be helpful. Working as a team with educators and caregivers on a behaviorial plan is imperative. The child's safety and preservation of self esteem should always be considered first.

Speech/Language - many children with PND's experience delay and/or difficulty with speech. Evaluation and treatment by a Speech Pathologist is recommended. Some of the children with PND's have a high degree of receptive language but expressive language is very difficult, often referred to as a "locked in syndrome". Adaptive technical and/or augmentative communication should be considered.

Eye movements - eye movements related to PND's are often mistaken for seizures. It is important to have the appropriate testing to rule out seizures.

After seizures are ruled out caregivers need to be educated. Some of the children experience oculogyric crisis (eyes fixating in one position) for long periods of time. Eye lubrication, periods of rest, decreased stimulation, planning activity around the times of eye movements and some medications can be helpful.

Orthopedic - children with PND's can incur problems with there musculoskeletal system. Physical Therapy and Occupational Therapy are strongly recommended.

Careful consideration should be given to positioning, proper seating, and adaptive equipment that might include: various leg/ body/hip braces, hand splints, positioning wedges etc. Calcium intake, bone density and safety precautions/prevention from fractures should all be considered with children who are immobile or have severe movement disorders.

Autonomic Symptoms - temperature/ blood pressure instability, excessive sweating, bradycardia (low heart rate), tachycardia (high heart rate) increased secretions, respiratory difficulty, and ANESTHETIC RISKS can be found in children with PND's.

If a child is undergoing surgery or testing that requires sedation special consideration and precautions should considered.

Monitoring vital signs, aspiration precautions, proper hydration, positioning and comfort measures should be put in place. Some children might need additional supportive equipment which might include; O2 saturation monitors, portable O2, suction, cough assist, respiratory support.

If a child has these symptoms on a regular basis an emergency egress plan should be put into place and local contact with the community EMS team should be recommended. Parents and caregivers should be educated in appropriate emergency intervention which should include CPR.

Feeding Difficulties/Aspiration - some children with PND's have difficulty eating, swallowing and may aspirate on food and or excess secretions. Evaluation and testing of oral motor function, GI function, and risk of aspiration should be considered. Referral to a certified feeding specialist is recommended.

All caregivers should be educated on aspiration precautions if a child is at risk. This should include; proper positioning, feeding techniques, emergency intervention.

Skin Integrity - some children with PND's experience skin problems related to nutrition difficulties or problems with immobility. A consult with a dermatologist might be helpful or if skin break down occurs a wound specialist should be considered. Close monitoring of skin integrity, proper hydration/nutrition and proper positioning is very important.

Respite - caring for a child with a PND can sometimes be overwhelming. Families need to be encouraged to take a break from the chronic caregiving role. It is important early on to get as many family members/friends/ others involved with the care of the child. This might mean just being able to sit with the child while the primary caregiver takes a break in another room.

Community involvement is also important and should also be considered for additional supports. Some state and local programs provide respite care and referrals should be considered.

Quality of Life - although children with PND's can have a multitude of care issues quality of life is the most important.

Regardless of disability or medical involvement families should be encouraged and provided the supports to preserve the child's quality of life across their lifespan. This often means providing additional supports so that the child can receive appropriate educational services, community involvement, and socialization programs.

If it is impossible for a child to leave the home, services and programs should be set up in the home. This often takes some flexibility and creative thinking from the child's team. Other parents and support groups are great resources for what is available in a community or specific state.

Palliative/Hospice care - some children with PND's might require additional support to maintain dignity and quality of life. Decisions may arise that are extremely difficult for families and it is imperative that they are guided to specialists who have experience with these types of decisions and care. There are now many pediatric hospice/palliative care programs and referrals should be made when appropriate. www.chionline.org.

This website is intended to provide information. It is not intended to, nor does it, constitute medical or other advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the information on this website without first consulting a physician.