Paul H. Lipkin

Identifying infants and young children with developmental disorders in the medical home: An algorithm for developmental surveillance and screening

Early identification of developmental disorders is critical to the well-being of children and their families. It is an integral function of the primary care medical home and an appropriate responsibility of all pediatric health care professionals. This statement provides an algorithm as a strategy to support health care professionals in developing a pattern and practice for addressing developmental concerns in children from birth through 3 years of age. The authors recommend that developmental surveillance be incorporated at every well-child preventive care visit. Any concerns raised during surveillance should be promptly addressed with standardized developmental screening tests. In addition, screening tests should be administered regularly at the 9-, 18-, and 30-month visits. (Because the 30-month visit is not yet a part of the preventive care system and is often not reimbursable by third-party payers at this time, developmental screening can be performed at 24 months of age. In addition, because the frequency of regular pediatric visits decreases after 24 months of age, a pediatrician who expects that his or her patients will have difficulty attending a 30-month visit should conduct screening during the 24-month visit.) The early identification of developmental problems should lead to further developmental and medical evaluation, diagnosis, and treatment, including early developmental intervention. Children diagnosed with developmental disorders should be identified as children with special health care needs, and chronic-condition management should be initiated. Identification of a developmental disorder and its underlying etiology may also drive a range of treatment planning, from medical treatment of the child to family planning for his or her parents.

Care coordination in the medical home: Integrating health and related systems of care for children with special health care needs

Care coordination is a process that facilitates the linkage of children and their families with appropriate services and resources in a coordinated effort to achieve good health. Care coordination for children with special health care needs often is complicated because there is no single point of entry into the multiple systems of care, and complex criteria frequently determine the availability of funding and services among public and private payers. Economic and sociocultural barriers to coordination of care exist and affect families and health care professionals. In their important role of providing a medical home for all children, primary care physicians have a vital role in the process of care coordination, in concert with the family.

Implementing developmental screening and referrals: lessons learned from a national project.

OBJECTIVES: To assess the degree to which a national sample of pediatric practices could implement American Academy of Pediatrics (AAP) recommendations for developmental screening and referrals, and to identify factors that contributed to the successes and shortcomings of these efforts. BACKGROUND: In 2006, the AAP released a policy statement on developmental surveillance and screening that included an algorithm to aid practices in implementation. Simultaneously, the AAP launched a 9-month pilot project in which 17 diverse practices sought to implement the policy statements recommendations. METHODS: Quantitative data from chart reviews were used to calculate rates of screening and referral. Qualitative data on practices implementation efforts were collected through semistructured telephone interviews and inductively analyzed to generate key themes. RESULTS: Nearly all practices selected parent-completed screening instruments. Instrument selection was frequently driven by concerns regarding clinic flow. At the projects conclusion, practices reported screening more than 85% of patients presenting at recommended screening ages. They achieved this by dividing responsibilities among staff and actively monitoring implementation. Despite these efforts, many practices struggled during busy periods and times of staff turnover. Most practices were unable or unwilling to adhere to 3 specific AAP recommendations: to implement a 30-month visit; to administer a screen after surveillance suggested concern; and to submit simultaneous referrals both to medical subspecialists and local early-intervention programs. Overall, practices reported referring only 61% of children with failed screens. Many practices also struggled to track their referrals. Those that did found that many families did not follow through with recommended referrals. CONCLUSIONS: A diverse sample of practices successfully implemented developmental screening as recommended by the AAP. Practices were less successful in placing referrals and tracking those referrals. More attention needs to be paid to the referral process, and many practices may require separate implementation systems for screening and referrals.

Joint statement - Learning disabilities, dyslexia, and vision

Learning disabilities, including reading disabilities, are commonly diagnosed in children. Their etiologies are multifactorial, reflecting genetic influences and dysfunction of brain systems. Learning disabilities are complex problems that require complex solutions. Early recognition and referral to qualified educational professionals for evidence-based evaluations and treatments seem necessary to achieve the best possible outcome. Most experts believe that dyslexia is a language-based disorder. Vision problems can interfere with the process of learning; however, vision problems are not the cause of primary dyslexia or learning disabilities. Scientific evidence does not support the efficacy of eye exercises, behavioral vision therapy, or special tinted filters or lenses for improving the long-term educational performance in these complex pediatric neurocognitive conditions. Diagnostic and treatment approaches that lack scientific evidence of efficacy, including eye exercises, behavioral vision therapy, or special tinted filters or lenses, are not endorsed and should not be recommended.

Attitudes about stimulant medication for attention-deficit/hyperactivity disorder among African American families in an inner city community

Limited information exists on views among African American families living in low-income, inner-city communities regarding the treatment of children with attention-deficit/hyperactivity disorder (ADHD). Parents of children treated for ADHD in an urban primary care setting were recruited to complete a survey to assess attitudes toward stimulant medications. Although most (71%) were initially hesitant to use stimulants based on what they heard in the lay press, 63% would recommend stimulant medication to a relative/friend whose child had ADHD. Approximately 17% believed stimulants led to drug abuse, 21% preferred counseling over medication, 21% felt medications had bad side effects, and 23% believed that too many children were medicated for ADHD. Most (90%) felt the medication was safe if a physician recommended it. Views did not differ between participants whose child had or had not received counseling. Additional studies are needed to clarify whether such views impact treatment choices and health outcomes.

A case of glutaric acidemia type I: Effect of riboflavin and carnitine

Glutaric acidemia, type I, is an organic acidemia associated with a progressive neurologic disorder. 1 By 1 year of age, affected individuals generally have recurrent episodes of vomiting and lethargy associated with metabolic acidosis. Progressive neurologic defici ts include dysarthria, dystonia, and choreoathetosis. Most affected Children are also mentally retarded. The presumptive diagnosis of GA-I is made by gas chromatography-mass spectrometry of urine revealing peaks of glutaric acid and its principal metabolites 3-OH-glutarate and glutaconate. The enzyme deficiency, glutaryl CoA dehydrogenase, is demonstrable in leukocytes, fibroblasts, and hepatocytes. 2 Therapeutic approaches have included low-protein diets and diets low in tryptophan and lysine, the precursors of glutaryl CoA. 3 Riboflavin (as flavin adenine dinucleotide), a cofactor of glutaryl CoA dehydrogenase, has been given to enhance residual enzyme activity? L-Carnitine has been used to stimulate the formation and excretion of shortchain acylcarnitine derivatives of glutaric acid. 4 Finally, because of evidence of inhibition of synthesis of G A B A by glutaric acid and the presence of decreased G A B A in brains of affected individuals, the G A B A analog baclofen has been given) With these techniques, progression of symptoms has been arrested in a number of cases but little clinical improvement has resulted? -8 The present report concerns a boy with GA-I who had progressive dystonic cerebral palsy associated with basal ganglia degeneration and who responded to riboflavin and L-carnitine therapy with evidence of biochemical and clinical improvement.

Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15‐yr‐old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM

Mohamadi A, Clark LM, Lipkin PH, Mahone EM, Wodka EL, Plotnick LP. Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15‐yr‐old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM.

The Thorny Nature of Predictive Validity Studies on Screening Tests for Developmental-Behavioral Problems

aDepartment of Pediatrics, PeaceHealth Medical Group, Eugene, Oregon; bDepartment of Pediatrics, Vanderbilt University, Nashville, Tennessee; cSchool of Medicine, Southern Illinois University, Springfield, Illinois; dDepartments of Neurology/Neurosurgery and Pediatrics, McGill University, Montreal, Quebec, Canada; eDivision of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland; fDepartment of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland; gCollege of Education, University of Oregon, Eugene, Oregon

Characterizing the daily life, needs, and priorities of adults with autism spectrum disorder from Interactive Autism Network data

Using online survey data from a large sample of adults with autism spectrum disorder and legal guardians, we first report outcomes across a variety of contexts for participants with a wide range of functioning, and second, summarize these stakeholders’ priorities for future research. The sample included nu2009=u2009255 self-reporting adults with autism spectrum disorder aged 18–71u2009years (Mu2009=u200938.5u2009years, standard deviationu2009=u200913.1u2009years) and nu2009=u2009143 adults with autism spectrum disorder aged 18–58u2009years (Mu2009=u200925.0u2009years, standard deviationu2009=u20098.2u2009years) whose information was provided by legal guardians. Although the self-reporting subsample had much higher rates of employment, marriage/partnership, and independent living than are typically seen in autism spectrum disorder outcome studies, they remained underemployed and had strikingly high rates of comorbid disorders. Data on both descriptive outcomes and rated priorities converged across subsamples to indicate the need for more adult research on life skills, treatments, co-occurring conditions, and vocational and educational opportunities. Stakeholders also placed priority on improving public services, health care access, and above all, public acceptance of adults with autism spectrum disorder. Findings must be interpreted in light of the self-reporting subsample’s significant proportion of females and of later-diagnosed individuals. This study underscores the need for lifespan research; initiatives will benefit from incorporating information from the unique perspectives of adults with autism spectrum disorder and their families.

Using systematic reviews and meta-analyses to support regulatory decision making for neurotoxicants: lessons learned from a case study of PCBs.

Background Epidemiologic weight-of-evidence reviews to support regulatory decision making regarding the association between environmental chemical exposures and neurodevelopmental outcomes in children are often complicated by lack of consistency across studies. Objective We examined prospective cohort studies evaluating the relation between prenatal and neonatal exposure to polychlorinated biphenyls (PCBs) and neurodevelopment in children to assess the feasibility of conducting a meta-analysis to support decision making. Data extraction/synthesis We described studies in terms of exposure and end point categorization, statistical analysis, and reporting of results. We used this evaluation to assess the feasibility of grouping studies into reasonably uniform categories. Results The current literature includes 11 cohorts of children for whom effects from prenatal or neonatal PCB exposures were assessed. The most consistently used tests included Brazelton’s Neonatal Behavioral Assessment Scale, the neurologic optimality score in the neonatal period, the Bayley Scales of Infant Development at 5–8 months of age, and the McCarthy Scales of Children’s Abilities in 5-year-olds. Despite administering the same tests at similar ages, the studies were too dissimilar to allow a meaningful quantitative examination of outcomes across cohorts. Conclusions These analyses indicate that our ability to conduct weight-of-evidence assessments of the epidemiologic literature on neurotoxicants may be limited, even in the presence of multiple studies, if the available study methods, data analysis, and reporting lack comparability. Our findings add support to previous calls for establishing consensus standards for the conduct, analysis, and reporting of epidemiologic studies in general, and for those evaluating the effects of potential neurotoxic exposures in particular.