Falling Off the Cliff: Transitioning to Adulthood

A very interesting four part article written in the Philadelphia Inquirer.

Please CLICK HERE to read the article…

Brief Excerpt:

It took three years for Eileen and Chris Romich to painstakingly research where their intellectually disabled son, Jonathan, 28, should live when they moved him out of their family home.

It took just three weeks for that plan to implode, leaving the family with ongoing fears for their son’s safety.

Flash back to 2014, when Eileen, 58, and Chris, 59, realized that Jonathan was ready to start establishing a life away from his family .

Jonathan Romich breaks into a big smile as he listens to music.
“I weighed every option — it took almost three years,” says Eileen, sitting with Chris in the kitchen of their Collegeville home. “We looked at group homes but none felt right. At one of them, the residents were all in bed by 6 o’clock at night, and the aides were watching TV. We were like, ‘What’s the deal here?’ “

The Romiches finally decided to rent a one-bedroom home for Jonathan, eight miles away, where agency-provided staff would monitor him around the clock, transport him to his daily activities, and manage his complex medical needs. He was born with Delleman syndrome, a rare genetic condition that causes brain malformation. As a result, he is blind, and has muscle weakness, seizures, and intestinal abnormalities that have required multiple hospitalizations.

He barely speaks, but he’s aware of his surroundings, knows and loves his family (the Romiches also have daughter Julia, 23, and son Scott, 22) and likes to play cassette tapes of music he has collected over the years. He has a musician’s ear: After hearing a commercial jingle just once, he can tap it out on an electronic keyboard. And he enjoys the sounds of timepieces; every half-hour, soft chimes from multiple wall clocks echo around the family room.

Service Dog Helps College Student Cope with POTS Syndrome

Read about how this service dog helps a college senior cope with her POTS (Postural Orthostatic Tachycardia Syndrome), a rare autonomic nervous system dysfunction that restricts blood flow to the brain. This college student also just so happens to be the niece of our very own Dr. Lawrence Laveman!

Article reprinted courtesy of Union College

Four legs, floppy ears, and a wet nose don’t seem to fit the typical description of someone equipped to help with disabilities, but in the case of Shayna this description is just enough when paired with years of training.

Shayna, an almost 9-month-old German shepherd, is in training with Sara Covelli a senior environmental policy major, to eventually work as her full time service dog.

When Covelli came to Union in the fall 2013, she never thought she would need the assistance of a service dog to complete her time at college. She was an active student on campus, taking classes, and involved club leadership roles in U-Sustain, Chabad and the campus tour guides. She was also awarded Union’s Green Fee and Presidential Green Grant.

But in the fall of 2015, things changed. She started experiencing frequent fainting spells, which forced her to leave Union.

Eventually after a summer of medical tests, Covelli was diagnosed with conditions known as Sjogrens Syndrome, and Postural Orthostatic Tachycardia Syndrome, commonly known as POTS. POTS is a chronic condition due to a rare autonomic nervous system dysfunction. The ANS is responsible for bodily procedures such as blood flow, breathing and heart rate. The condition causes a spike in heart rate and low blood pressure, making it difficult for blood flow to reach a person’s brain. This leads to frequent fainting, light-headedness, brain fog, chronic pain and weakness.

That’s where Shayna comes in. Shayna, who will become one of the first registered service animals on campus, helps retrieve items such as medications and water, notify her when her heart rate gets too high, and can also assist her after a fainting spell by elevating her feet to help her regain consciousness quickly.

“These animals help students with a serious medical diagnosis to be able to come to our campus and learn in our classrooms,” said Shelly Shinebarger, director of Disability Services.

Though there is no national certification for service dogs, Sara hopes to have Shayna certified as a Canine Good Citizen, the gold standard for dog behavior. “Service dogs should be viewed like a wheelchair, a medical device that allows me to live and function in my daily life,” said Covelli.

Covelli said she’s relieved to have a partner like Shayna on campus, and wants to start a dialogue on campus to help others who are dealing with these kinds of obstacles. “I’d like Union to be as informed as possible about invisible disabilities,” she said.

“If you don’t look disabled, it is very hard for people to understand the concept of illness,” Covelli said. “Not all disabilities are visible.”

After graduation, she plans to attend law school, focusing on environmental law.

You can follow Shayna’s journey on Instagram here.

Dr Kurlan Article on Movement Disorders for NJ Pediatrics

As printed in the journal New Jersey Pediatrics Fall 2017 – njaap.org

Children with developmental disabilities, such as autism spectrum disorder, mental retardation and genetic diseases, often experience a variety of movement disorders that may be difficult to diagnose and to distinguish from normal movements of childhood. When present they are often disturbing or concerning to parents. This article will review such movement disorders, providing information on diagnosis, etiology and potential treatments.

Habits are repetitive, coordinated movements commonly seen in normal individuals, particularly during periods of boredom, anxiety, self-consciousness, or fatigue. Some habits are considered to be a normal part of development, such as thumb sucking. Thumb sucking usually disappears by age 3-4 years, but it has been reported to occur in 30% of 12 year-olds, typically when they are tired. After age 9, thumb sucking is associated with emotional immaturity. Biting fingernails, pens or pencils is another common habit which is reported by 40-50% of adolescents. These actions are associated with stress and anxiety. Some habits,such as nose picking, are considered socially inappropriate. Other common habits include finger tapping or drumming, leg shaking, pushing up eyeglasses, nose rubbing, and hair twirling. Behavioral therapy can be used to reduce or eliminate bothersome and persistent habits. Note that an important factor in properly diagnosing childhood movement disorders is paying close attention to “the company it keeps”. Thus, a particular movement, say finger tapping, could represent a habit, a stereotypy, a tic or a compulsion in a given individual. Long duration or the movement in a person with mental retardation or autism suggests it is a stereotypy, coexisting obsessions suggests it is a compulsion, and absence of any of these suggest it is a habit (see below).

Mannerisms are peculiar characteristic ways of performing a normal activity, such as an odd (e.g. wiggling, stork-like steps) gait, an unusual speech pattern, or movement flourishes. Mannerisms serve to attract attention to an individual and are typically associated with personality disorders or schizophrenia.

Stereotypies are coordinated, rhythmic, repetitive, patterned movements, postures or vocalizations that are carried out virtually the same way over and over again for prolonged periods of time. Like tics, they can be divided into simple and complex forms. Examples of simple stereotypies are body rocking, head nodding, finger flapping, and moaning. Walking in circles, standing/sitting, repetitive words or phrases would be considered complex stereotypies. Also, like tics stereotypies can be of motor or vocal types. Stereotypies are commonly associated with mental retardation, with one study showing them present in about one-third of institutionalized adults (rhythmic movements in 26%, posturing in 13% and object manipulation in 7%). Some stereotypies can be self-injurious, such as head banging, skin scratching or eye poking, particularly in individuals with intellectual disability. Steretypies are also commonly seen in patients with autism. A particular type, hand knitting, wringing or washing-like movements, point to the autistic disorder Rett syndrome. Two opposing hypotheses have been presented to explain the occurrence of stereotypies, particularly in those with autism. One proposes that autism represents a type of sensory and social isolation and that stereotypies are attempts by the individual at self-stimulation (they are therefore sometimes referred to as “stims”). An alternate view is that the repetitive actions are attempts to filter out and decrease what is felt to be an overstimulating environment. The fact that stereotypies frequently occur in people with congenital blindness and deafness (noises in deaf children but not blind) has been used to support the notion that they occur in the setting of sensory deprivation or perhaps represent a manifestation of inappropriate processing of external stimuli. Stereotypies are generally treated when they are self-injurious or otherwise disabling. Due to evidence of increased brain dopamine with stereotypies, dopamine receptor blockers (antipsychotics) and dopamine depletors (tetrabenazine and newer derivatives) can be used.

Compulsions are repetitive and seemingly purposeful behaviors that are often performed in response to obsessions, according to rules (ritualistic), or to ward off future harm or a dreaded event. Attempts are made to ignore, resist or suppress the behavior. When compulsions are disabling, the diagnosis obsessive-compulsive disorder (OCD) is applied. Common compulsions include checking, counting, ordering/lining up, perfectionism and hand washing. Compulsions have been linked to abnormalities in the basal ganglia of the brain and disturbed serotonin neurotransmission. Cognitive behavioral therapy, selective serotonin reuptake inhibitors and atypical antipsychotics are standard treatments; deep brain stimulation (usually invoking the nucleus accumbens) is used in severe cases.

Tics are involuntary movements (motor tics) or sounds (vocal tics). Simple motor tics consist of quick twitches or jerks, such as eye blinking, facial movements, head jerks. Complex motor tics involve more complex or purposeful-looking movements, such as touching, tapping, hopping, skipping. Simple vocal tics are sounds and noises like throat clearing, grunting, coughing, humming, etc. When there is linguistic meaning to the utterances (syllables, words, phrases) they would be considered complex vocal tics. These may include obscene or socially inappropriate verbalizations (coprolalia), but this phenomenon is uncommon in patients with tics. The presence of chronic (present for at least 1 year) motor and vocal tics in the absence of a primary cause such as medication-induced or an underlying brain disease (e.g. head trauma, encephalitis) signifies a diagnosis of Tourette’s syndrome (TS). Tics are common in children with autism and mental retardation. In this circumstance, they are considered secondary to the primary brain disorder and the diagnosis of TS is not used. Since they commonly occur together, there is often an overlap between the phenomena of tics and compulsions (“compultics” such as having to tap a certain number of times) and impulsiveness (“impultics” such as kicking or punching someone or having an urge to touch a hot stove). These overlap symptoms typically require treatment aimed at both phenomena to gain full control. Disabling tics can be treated with habit reversal behavioral therapy, an alpha-agonist such as guanfacine and an antipsychotic drug (classical or atypical). Derivatives of tetrabenazine have recently become available and they show evidence of suppressing tics.

Children with brain developmental disorders, often with cerebral palsy, commonly experience the movement disorders athetosis (flowing, wriggling and twisting movements; athetoid cerebral palsy) or dystonia (slow twisting or tightening movements). Anticholinergic or muscle relaxing medications (e.g. baclofen) may be helpful, but local intramuscular injection of botulinum toxin has become the standard treatment.

Finally, it is important to consider the possibility that any observed involuntary movements might be side effects of medications prescribed for other purposes, particularly antipsychotics or antiemetic drugs. These include acute dystonia when the drugs are initiated and, usually with more chronic use, parkinsonism, tardive dyskinesia, and akathisia (motor restlessness often associated with pacing, getting up and down from chairs).

References

1. Kurlan R, O’Brien C. Spontaneous movement disorders in psychiatric patients. Drug Induced Movement Disorders, Mt. Kisco, NY, 1992.
2. Kurlan R. Tourette syndrome. New England J Med 2012;363:2332-8.
3. Edwards MJ, Lang AE, Bhatia KP. Stereotypies: a critical reappraisal and suggestion of a clinically useful definition. Movement Disorders 2012;27:179-185.

Screen-Based Media and Sleep Outcomes: Systematic Review and Meta-analysis

Carter B, Rees P, Hale L, Bhattacharjee D, Paradkar MS. Association Between Portable Screen-Based Media Device Access or Use and Sleep OutcomesA Systematic Review and Meta-analysis. JAMA Pediatr. Published online October 31, 2016. doi:10.1001/jamapediatrics.2016.2341

Key Points

Question

Is there an association between screen-based media device access or use in the sleep environment, and sleep quantity and quality?

Findings

A systematic review and meta-analysis showed strong and consistent evidence of an association between access to or the use of devices and reduced sleep quantity and quality, as well as increased daytime sleepiness.

Meaning

An integrated approach among teachers, health care professionals, and parents is needed to improve sleep hygiene.

Abstract

Importance

Sleep is vital to children’s biopsychosocial development. Inadequate sleep quantity and quality is a public health concern with an array of detrimental health outcomes. Portable mobile and media devices have become a ubiquitous part of children’s lives and may affect their sleep duration and quality.

Objective

To conduct a systematic review and meta-analysis to examine whether there is an association between portable screen-based media device (eg, cell phones and tablet devices) access or use in the sleep environment and sleep outcomes.

Data Sources

A search strategy consisting of gray literature and 24 Medical Subject Headings was developed in Ovid MEDLINE and adapted for other databases between January 1, 2011, and June 15, 2015. Searches of the published literature were conducted across 12 databases. No language restriction was applied.

Study Selection

The analysis included randomized clinical trials, cohort studies, and cross-sectional study designs. Inclusion criteria were studies of school-age children between 6 and 19 years. Exclusion criteria were studies of stationary exposures, such as televisions or desktop or personal computers, or studies investigating electromagnetic radiation.

Data Extraction and Synthesis

Of 467 studies identified, 20 cross-sectional studies were assessed for methodological quality. Two reviewers independently extracted data.

Main Outcomes and Measures

The primary outcomes were inadequate sleep quantity, poor sleep quality, and excessive daytime sleepiness, studied according to an a priori protocol.

Results

Twenty studies were included, and their quality was assessed. The studies involved 125 198 children (mean [SD] age, 14.5 [2.2] years; 50.1% male). There was a strong and consistent association between bedtime media device use and inadequate sleep quantity (odds ratio [OR], 2.17; 95% CI, 1.42-3.32) (P < .001, I2 = 90%), poor sleep quality (OR, 1.46; 95% CI, 1.14-1.88) (P = .003, I2 = 76%), and excessive daytime sleepiness (OR, 2.72; 95% CI, 1.32-5.61) (P = .007, I2 = 50%). In addition, children who had access to (but did not use) media devices at night were more likely to have inadequate sleep quantity (OR, 1.79; 95% CI, 1.39-2.31) (P < .001, I2 = 64%), poor sleep quality (OR, 1.53; 95% CI, 1.11-2.10) (P = .009, I2 = 74%), and excessive daytime sleepiness (OR, 2.27; 95% CI, 1.54-3.35) (P < .001, I2 = 24%).

Conclusions and Relevance

To date, this study is the first systematic review and meta-analysis of the association of access to and the use of media devices with sleep outcomes. Bedtime access to and use of a media device were significantly associated with the following: inadequate sleep quantity, poor sleep quality, and excessive daytime sleepiness. An integrated approach among teachers, health care professionals, and parents is required to minimize device access at bedtime, and future research is needed to evaluate the influence of the devices on sleep hygiene and outcomes.

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Neuro Film Festival 2016 AAN

From American Academy of Neurology Film Festival Website…

2016 Neuro Film Festival

We are pleased to announce the winners of this year’s Neuro Film Festival!

GRAND PRIZE and FAN FAVORITE AWARD
Sigurdur Johannesson for his moving documentary “Human Timebombs,” which looks into the life of Sunna Valdis, a nine-year-old girl in Reykjavik, Iceland, and other children from around the world with alternating hemiplegia of childhood (AHC), a rare neurological disorder caused by a mutation in the gene ATP1A3.

RUNNER-UP PRIZE
Katie Brandt for “Love is Out There: A Story of Love, Loss, and Resilience in the Face of Frontotemporal Dementia,” a very personal and touching account of the loss of her husband, Mike, to this vicious disease resulting in the hope of raising awareness about this rare disorder to help other families navigate the struggle of caring for a loved one with FTD.

Sixty-six video entries about a variety of neurologic conditions were submitted to the 2016 Neuro Film Festival. View all video entries.


The Neuro Film Festival is an online video contest that aims to raise awareness about the need for why more funding is needed for research into the prevention, treatment, and cure of brain disease.

Participants are encouraged to share their story about the impacts of brain disease, such as Alzheimer’s disease, stroke, brain injury, ALS, epilepsy, Parkinson’s disease, multiple sclerosis, and others. These stories inspire others and educate people about the need for more brain disease research.

Presented by the American Academy of Neurology.


Neuro Film Festival Competition Rules and Guidelines

View the 2016 Neuro Film Festival Rules and Guidelines

List of Brain and Nervous System Diseases

The views expressed in the films are those of the entrants and do not necessarily represent the views of, and should not be attributed to, the American Academy of Neurology and its affiliated organizations.


Neuro Film Festival Press Releases

March 25, 2016

December 4, 2015


2015 Neuro Film Festival Winners

GRAND PRIZE
The Curse: The Bhutan Epilepsy Project by Farrah J. Mateen, MD, PhD, Cambridge, MA

RUNNER-UP PRIZE
Looks Like Laury Sounds Like Laury by Pamela Hogan, New York, NY

FAN FAVORITE AWARD
Changing the Face of Parkinson’sby Jennifer Cody, Richardson, TX

2014 Neuro Film Festival Winners

GRAND PRIZE
Dystonia Devin by Devin McClernan, Kenwood, CA

RUNNER-UP PRIZE
Life is a Journey by Douglas Browning, Kennewick, WA

FAN FAVORITE AWARD
My Hero an MSA Angel Story by Alix Sun, Sarasota, FL

2013 Neuro Film Festival Winners

GRAND PRIZE
Hope for HumaNS by Suzanne Gazda, San Antonio, TX

RUNNER-UP PRIZE
Epillepsy by Ingrid pfau, Bozeman, MT

FAN FAVORITE AWARD
Little Heroes by Paola Leone, Stratford, NJ

2012 Neuro Film Festival Winners

GRAND PRIZE
The Astronaut’s Secret by Zach Jankovic

RUNNER-UP PRIZE
Duchenne with a Future: The Power to Live by Patrick Moeschen

FAN FAVORITE AWARD
Multiple System Atrophy MSA by Paola Vermeer

2011 Neuro Film Festival Winners

GRAND PRIZE
Calling on Her by Amanda Voisard of Syracuse, NY

RUNNER-UP PRIZE
Often Awesome, The Series by Andy Coon of Greensboro, NC

FAN FAVORITE AWARD
Hope and a Clinical Trial to Halt MS by David Bexfield of Albuquerque, NM

2010 Neuro Film Festival Winners

FILMMAKER PRIZE
Tracking Evan: Caring, By the Numbers by Peter von Elling of Falls Church, Virginia.

STORYTELLER PRIZE
CJD, A Personal Story by Shenly Glenn of San Francisco, California.

FAN FAVORITE PRIZE
Tracking Evan: Caring, By the Numbers by Peter von Elling of Falls Church, Virginia.

15 Common Sleep Beliefs: Fact or Fiction?

  1. The older you get, the more sleep you need.
    FALSE: From age 21 to old age 8 hours, more or less is needed.
  2. The main reason teens are sleepy is the brain produces melatonin later than other age groups.
    TRUE: The biologic clocks in teens are usually delayed and Melatonin is produced later at night so they dont get as sleepy until later.
  3. Melatonin is the hormone of darkness.
    TRUE: The brain produces it and releases it at night, when in the dark. It is low in the early morning light.
  4. About 40% of people who are very overweight have sleep apnea, even if they don’t know it.
    TRUE: For example, there are 8 million truck drivers in the USA. 30-40%, at least, are significantly overweight. and 40-50 % of them have sleep apnea….almost 2 million!!! and many are sleepy…
  5. If teens are not getting enough sleep,the rates of depression, sleepiness, and motor vehicle accidents goes up and grades go down.
    TRUE: Studies have shown this.
  6. Restless legs can be easily treated most of the time with either Iron, Melatonin or prescription medications.
    TRUE: Iron deficiency is a cause. Recently it was shown that Melatonin helps decrease restless leg syndrome.
  7. Children from age 3 to 9 can have significant apnea if their tonsils are big.
    TRUE: This is the main cause of pediatric apnea
  8. CPAP is the only way to treat sleep apnea.
    FALSE: There are several other ways.
  9. CPAP is the best way to treat severe sleep apnea
    TRUE: Very effective.
  10. Sleep apnea can cause high blood pressure, diabetes and weight gain
    TRUE: Also heart attack and stroke.
  11. Sleep apnea and AFIB are often found together in the same patient.
    TRUE: Apnea can make it worse.
  12. Behavior problems in children don’t cause sleep problems
    FALSE: They often do.
  13. Children with Autism Spectrum disorder occasional have sleep problems.
    FALSE: It is 40-80%
  14. Children with ADHD are so active in the daytime that they sleep well at night.
    FALSE: Often they have difficulty settling down and falling asleep.
  15. Autism, Narcolepsy, Seizures, Insomnia, Restless legs and Obstructive Sleep Apnea are all brain/neurologic problems.
    FALSE: All are except sleep apnea which has other causes.

March is Cerebral Palsy Awareness Month

March is National Cerebral Palsy Awareness Month. National Cerebral Palsy Awareness Month is committed to raising awareness of the disorder as well as the ongoing research efforts being done to find new treatments and hopefully a cure.

Here are some Cerebral Palsy resources you may find useful:

Of course there are so many more websites and resources that exist about Cerebral Palsy and raising Cerebral Palsy awareness. You can help spread the word by sharing this article and following us on our social media profiles as we share CP related content this month.

The Center for Neurological and Neurodevelopmental Health offers evaluations, treatments and support for parents of children with Cerebral Palsy. If you have any questions, please give us a call at (855) 852-8150 or click here to request an appointment.

Did You Know: 6 Facts About Cerebral Palsy

Cerebral Palsy (CP) is a term used often to describe those who have abnormalities of body movement, balance and posture occurring from abnormal neurological processes. The mechanism(s) that causes CP occurs more frequently during prenatal life as the fetus develops, from infections, abnormalities of the placenta, fetal stroke, genetic abnormalities, developmental abnormalities of the fetal brain, trauma to the mother, premature delivery, and other causes, or after birth from inborn metabolic disorders, epilepsy, neurotransmitter disorders, and other causes.

Here are 6 interesting facts you need to know about CP:

  • Cerebral Palsy (CP) is the most common motor disability in childhood.
  • CP affects 1 in 500 newborns.
  • CP is a congenital disorder of movement, muscle tone and or posture.
  • Globally, over 17 million people have CP.
  • Symptoms of CP vary from person to person.
  • There is no known cure for CP, but treatment can improve the lives of those who have the condition. It is important to begin a treatment program as early as possible.

 

Learn about Cerebral Palsy Services at CNNH >>>

 

A Good Night’s Sleep is More than a Dream!

Sleep is an important contributor to overall brain health. Sleep disorders are linked to a variety of neurological and other health problems. If you suspect a sleep disorder, it is important to get an evaluation from a Board Certified Sleep Medicine Specialist.

Read the Full Article Here >

Article Excerpt:
“Today’s youth are also at tremendous risk for long-term, sleep-related health impacts. Sleep-related disorders are on the rise, creeping upward among older workers and becoming staggeringly common in young adults. We’ve long known that sleep is crucial to good health: Bodies subjected to sleep deprivation undergo an ugly metamorphosis until they are in many ways fundamentally different from their sufficiently-slept counterparts. A study published recently in Proceedings of the National Academy of Sciences (PNAS)showed that chronic sleep deprivation caused “shifts” in the expression levels of more than 700 genes. “Many of these [genes] are related to inflammation and immune and stress response, and overlap with the program of gene expression that is generally associated with high stress levels,” explains Malcolm von Schantz, a researcher at the University of Surrey who helped conduct the PNAS study.

Sleep loss has tremendous cognitive consequences: Dozens of studies have connected lack of sleep to deficits ranging from poor insight formation to diminished working memory. Chronic sleep deprivation is also associated with increased mortality and especially obesity, diabetes, cardiovascular disease and impaired cognitive function, says von Schantz. REM sleep in particular is needed for maintaining brain cells: “Brain cells are some of the few cells in our bodies that we retain throughout our lives,” says Czeisler. “We store our memories, and through their complicated architecture, they are difficult to replace.” Sleep is when toxins accumulated by the body get flushed out of the brain—including big-name baddies like amyloid beta, the plaque that, if it builds up, eventually causes Alzheimer’s.”

Adolescents with Special Needs: Better Transitioning to Adult Health Care

Here is an article I contributed to New Jersey Pediatrics, Volume 39, Issue 2, Summer 2014 (reprinted with permission from the American Academy of Pediatrics – New Jersey Chapter). 

 

The goal of any health system is to optimize health and minimize disease burden over the life span, for individuals, families and society.[1] Pediatric primary care providers play a pivotal role in this process. It is their responsibility to promote and maintain the health of individuals from birth through 21 years of age. By addressing the sources and mechanisms of chronic disease and disabilities, pediatricians can contribute to improving odds of lifelong health.

Children and adolescents with neurological, neurodevelopmental, neurobehavioral and intellectual disorders and diseases present special challenges. Conditions such as Autism Spectrum Disorders and ADHD are being diagnosed in epidemic proportions, and are rapidly becoming adult epidemics. However, most adult practitioners have little education, training or experience in dealing with chronic disorders that begin during infancy or childhood. After years of being nurtured by an array of medical, educational, government and other support services prior to age 21, families are jettisoned into a confusing and dysfunctional system ill-equipped to continue the substantial gains and stability of the pediatric years. Families become despondent as their special needs children–now suddenly considered adults despite lacking the usual maturational surrogate markers of such a transition, and often functioning at childhood developmental levels–sit at home and regress without school routines, vocational programs, social outlets, or community integration. Families subsequently encounter a dearth of adult primary and specialty care providers that are versed in the care and management of these challenging individuals, which often leads to one crisis after another, without therapeutic progress.

Yet, individuals with special needs have abilities, not just disabilities. Their success is dependent upon the same needs as their typical peers: healthy lifestyles, educational and vocational opportunities, proper housing, community involvement, social outlets, creative arts and physical activities, and adult independence/supported individuality.[2] It is morally and ethically unjust to only provide these pathways to the non-disabled community. Additionally, the Affordable Care Act (ACA) has impelled government and insurance companies to create innovative health care delivery models that provide cost effective care through promoting quality health outcomes. The lack of proper adolescent to adult health care transitioning programs is antithetical to the tenets of the ACA. Rather, the absence of attention to transitioning special needs patients has, and will, explode the costs and risks to third party and government payers, as well as physicians. Additionally, there are many “hidden” costs associated with this dilemma, including fragmentation of care, stress on caregivers, absence from work, family instability, and more. This emergent situation is complex, but pediatric primary care providers can play a pivotal role in preparing special needs patients and their families for a smooth and well-planned transition to adult life, resulting in better health outcomes.

How can pediatric primary care providers make a difference?

  1. Understand that disorders in this population have a biological basis, and should be assigned medical, not “mental health”, diagnoses. Physicians should assist and assure that the diagnostic odyssey and therapeutic interventions of their patients are pragmatic and evidence-based. Misdiagnosis or improper diagnoses that are carried over to adult life will lead to unnecessary and potentially toxic therapies and interventions.
  2. Proper biological phenotyping of special needs populations requires primary care providers to engage with multidisciplinary teams of specialists. Analyzing their underlying genetic risks and susceptibilities, neurophysiological manifestations, metabolic state, neuropsychological functioning, and functional behaviors will lead to therapies targeted at underlying disease processes rather than external symptoms.
  3. Prepare families well in advance for the adult transition so they are ready for the challenges of obtaining intensive adult services, such as residential placement or vocational training. Pediatricians can partner with specialty care health organizations well versed in navigating these complexities, or can direct families to an array of family support organizations.
  4. Many pediatricians, by default or choice, find themselves caring for their special needs patients beyond age 21. I would encourage this approach to ensure that patient transitioning is complete and flawless. Many innovative specialty care medical homes provide seamless services throughout the lifespan, and pediatricians should consider partnering with them.
  5. Pediatricians are crucial in assuring that specialized health maintenance protocols are followed, as occurs, for example, with disorders such as Down Syndrome and various metabolic disorders. Additionally, please advocate on behalf of your patients for proper educational accommodations and classroom placements.
  6. It has been well documented that children with special needs have higher aggregate health care costs than their typical peers. [3] One cost contributor is higher prescription drug use. Although medications are sometimes necessary to target behavioral manifestations or co-morbid disorders, such as epilepsy, there is a tendency to over-medicate this population. Pediatricians should monitor for excessive prescribing that can occur as a result of fragmentation of specialty care. Pediatricians should refer families to organizations that provide non-pharmacological therapeutic interventions integrated with medical expertise.

Overall, health care funding paradigms will be changing to systems based on health outcomes, the ability to manage and/or share risk, physician accountability, longitudinal integration of services, and lifespan care and management. Thus, health care reforms present not just challenges, but rather opportunities for pediatricians to play an active role in helping this deserving population.

 

REFERENCES

  1. Halfon N, Conway PH: The opportunities and challenges of a lifelong health system. N Engl J Med 2013; 368:1569-1571.
  2. Taylor JL, Smith LE, Mailick MR: Engagement in vocational activities promotes behavioral development for adults with Autism Spectrum Disorders. J Autism Dev Disord 2013; Nov 28. [Epub ahead of print]
  3. Lavelle TA, Weinstein MC, Newhouse JP, et al.: Economic burden of childhood autism spectrum disorders. Pediatrics 2014; published online February 10; doi: 10.1542/peds.2013-0763

 

By Mark Mintz