Prerequisite Skills in Cognitive Testing: Innovations in theory and recommendations for practice.

Testing cognitive skill development is important for diagnostic, prognostic, and monitoring purposes, especially for young children and individuals with neurodevelopmental disorders. Developmental tests have been created for infants and toddlers, while traditional IQ tests are often employed beginning in the later preschool period. However, IQ tests rely on developmental skills that are rapidly changing during early childhood. Here, we introduce the idea of prerequisite skills in developmental domains, which are discrete skills required for, but not explicitly tested by, traditional IQ tests. Focusing on general cognition, particularly among children with a chronological or mental age under 4 years, may fail to capture important nuances in skill development. New skill-based assessments are needed in general, and in particular for categorization, which is foundational to higher-order cognitive skills. Novel measures quantifying categorization skills would provide a more sensitive measure of development for young children and older individuals with low developmental levels.

Challenging Case: New-Onset Hallucinations and Developmental Regression in a Child with Autism Spectrum Disorder.

CASE: Nick is a 5-year-old boy who began displaying self-stimulating behaviors and decreased social interactions shortly before turning 3 years. At the age of 3.5 years, he was diagnosed with autism spectrum disorder by a local developmental-behavioral pediatrician. His parents recall that the physician described Nick to be "high functioning" and encouraged them to expect that he would attend college and live independently as an adult. Upon receiving the diagnosis, intervention was initiated using an applied behavioral analysis (ABA) approach. With this intervention, he demonstrated initial gains in the use of complex language and improved social interactions.Concerns regarding suspected psychosis emerged just before starting kindergarten when Nick began experiencing ego-dystonic visual and auditory hallucinations. Initially, Nick verbally responded to the hallucinations and vividly described what he was experiencing. Shortly after the onset of these hallucinations, Nick experienced a significant decrease in the frequency and complexity of his expressive language and became more withdrawn. Over time, his hallucinations intensified, and his parents became increasingly fearful for his safety. Various antipsychotic and mood-stabilizing medications, steroids, and immunotherapy have been trialed with limited improvement of his symptoms.An extensive medical evaluation yielded the following:1. Magnetic resonance imaging of the brain: dilated perivascular spaces.2. Urine organic acids: ketosis and increased lactic acid.3. Antinuclear antibody: minimally positive.4. Vitamin B12: elevated.All other studies, including lumbar puncture, electroencephalogram (awake and asleep), genetic studies (chromosomal microarray, fragile X testing, and whole exome sequencing), metabolic studies, inflammatory markers, and thyroid panel, were negative/normal.Nick is enrolled in a special education classroom within a school that utilizes an ABA-based approach for all students. As part of his educational programming, he receives 25 hours of ABA in a 1:1 setting, 2 hours of speech therapy, 3 hours of occupational therapy, 1 hour of physical therapy, and 30 minutes of music therapy weekly. Current concerns include significant head-banging and thrashing before falling asleep, hyperactivity, unsafe behaviors (e.g., banging on windows, climbing high to reach desired items), aggression toward caregivers, limited ability to complete self-care tasks (e.g., personal hygiene, toileting), significant decline in expressive language, and continued response to internal stimuli.Nick's parents now present to a multidisciplinary center seeking guidance regarding additional therapies/interventions to assist in management of his current developmental and behavioral challenges as well as information regarding his expected developmental trajectory as he reaches adulthood.

Development and Evaluation of an Educational Initiative to Improve Hospital Personnel Preparedness to Care for Children with Autism Spectrum Disorder.

OBJECTIVE: To evaluate the effectiveness of a multimodal educational curriculum on increasing hospital personnel's awareness of successful strategies and comfort in caring for children with autism spectrum disorder (ASD). METHODS: We developed a 3-part training for front-line staff (i.e., front desk, clinical assistants, and phlebotomists) in 8 outpatient hospital departments frequented by patients with ASD. Following a needs assessment, participants completed an online educational module and then attended an in-person seminar tailored to each department. To evaluate training effectiveness, we administered pre-, immediate post-, and 1 month post-training surveys assessing personnel attitudes, comfort, perceived knowledge, and behaviors around caring for patients with ASD. RESULTS: We trained 168 staff members from 8 departments. On the needs assessment, participants (N = 129) reported a mean 2.5 behavioral incidents involving patients with ASD over the previous 3 months; 92% believed that the training would be helpful for their work. Across pre-, immediate- and 1-month post-training surveys, scores improved on all questions related to personnel attitudes about the importance of ASD-friendly care, comfort interacting with patients with ASD, perceived knowledge about ASD, and self-reported frequency of behaviors intended to help children with ASD adjust to the hospital setting (p < 0.05). There was no difference in baseline scores or change in scores between clinical and nonclinical personnel. On a program evaluation (N = 57), 81% rated the training as "very good" or "excellent," and 87% reported that they would be able to apply training material immediately to their role. CONCLUSION: This training initiative led to improvement in attitudes, comfort level, perceived knowledge, and self-reported behaviors of hospital personnel working with patients with ASD, which was maintained over 1 month.

Long-term developmental outcome of children with a fetal diagnosis of isolated inferior vermian hypoplasia.

OBJECTIVES: Isolated inferior vermian hypoplasia (iiVH) is one of the most common fetal cerebellar anomalies presenting for fetal neurological counselling with controversial postnatal neurodevelopmental outcome. In the present study, we characterised the long-term neurodevelopmental outcome of prenatally diagnosed iiVH at school age. DESIGN AND PATIENTS: We prospectively followed 20 children with fetal MRI diagnosis of iiVH including their postnatal MRI result and developmental outcome at school age (mean 6.1 years±1.9 years SD) using a comprehensive age-appropriate developmental testing battery, which encompassed cognitive, language, social and behavioural domains. Parental stress level and socioeconomic status were also evaluated. RESULTS: All children with postnatally confirmed iiVH had a normal neurodevelopmental outcome. A subgroup of children (2/20) who demonstrated cognitive delays and behavioural impairments had more extensive cerebellar malformation. Despite a normal developmental outcome, the parents of children with postnatally confirmed iiVH had higher parental stress compared with those parents whose children had normal postnatal MRI. CONCLUSIONS: Children with postnatally confirmed iiVH show age appropriate functioning at school age. Postnatal MRI is important to confirm the diagnosis of iiVH and to exclude associated anomalies that impact neurodevelopmental outcome. A diagnosis of iiVH is associated with persistent elevated parental stress despite normal developmental outcomes in these children suggesting the need for ongoing parental support.

Cerebellar injury in term infants: clinical characteristics, magnetic resonance imaging findings, and outcome.

Although cerebellar injury in the premature infant is an increasingly recognized form of neonatal brain injury, its structural and functional outcomes remain poorly defined in the term infant. The objective of this cross-sectional study was to characterize the clinical and magnetic resonance imaging features and neurodevelopmental outcome in children, born at term, with cerebellar injury. Over a 5-year period, 20 infants were identified with ischemic (n = 3) or hemorrhagic (n = 17) cerebellar injury. Lesions were small (<1 cm) in 12 cases, and large in 8 cases. Prenatal and intrapartum factors frequently documented in term infants with cerebellar injury included primiparity (55%), advanced maternal age (30%), group B streptococcus-positive mothers (35%), abnormal fetal heart rate (35%), instrumented delivery (30%), and cesarean section (25%). At follow-up of 18 cases (median age, 32 months), 39% had neurologic abnormalities. Gross motor delays, expressive language deficits, and externalizing behavioral problems were the most common (44%). Cognitive deficits were present in one third of cases. Larger cerebellar lesions were associated with significantly lower cognitive, gross motor, expressive language, and social-behavioral scores. Cerebellar injury in the term infant is associated with a broad spectrum of neurodevelopmental disabilities, particularly in infants with large cerebellar lesions.

Positive screening for autism in ex-preterm infants: prevalence and risk factors.

OBJECTIVE: The survival of very low birth weight infants has increased markedly in recent years. Unfortunately, the prevalence of significant and lifelong motor, cognitive, and behavioral dysfunction has remained a major problem confronting these children. The objective of this study was to perform screening tests for early autistic features in children with a history of very low birth weight and to identify risk factors associated with a positive screening result. METHODS: We studied 91 ex-preterm infants < or = 1500 g at birth. Infants underwent conventional MRI studies at preterm and/or term-adjusted age. We collected pertinent demographic, prenatal, intrapartum, acute postnatal, and short-term outcome data for all infants. Follow-up assessments were performed at a mean age of 21.9 +/- 4.7 months, using the Modified Checklist for Autism in Toddlers, the Vineland Adaptive Behavior Scale, and the Child Behavior Checklist. RESULTS: Twenty-six percent of ex-preterm infants had a positive result on the autism screening tool. Abnormal scores correlated highly with internalizing behavioral problems on the Child Behavior Checklist and socialization and communication deficits on the Vineland Scales. Lower birth weight, gestational age, male gender, chorioamnionitis, acute intrapartum hemorrhage, illness severity on admission, and abnormal MRI studies were significantly associated with an abnormal autism screening score. CONCLUSIONS: Early autistic behaviors seem to be an underrecognized feature of very low birth weight infants. The results from this study suggest that early screening for signs of autism may be warranted in this high-risk population followed by definitive autism testing in those with positive screening results.

Does cerebellar injury in premature infants contribute to the high prevalence of long-term cognitive, learning, and behavioral disability in survivors?

OBJECTIVE: Although cerebellar hemorrhagic injury is increasingly diagnosed in infants who survive premature birth, its long-term neurodevelopmental impact is poorly defined. We sought to delineate the potential role of cerebellar hemorrhagic injury in the long-term disabilities of survivors of prematurity. DESIGN: We compared neurodevelopmental outcome in 3 groups of premature infants (N = 86; 35 isolated cerebellar hemorrhagic injury, 35 age-matched controls, 16 cerebellar hemorrhagic injury plus supratentorial parenchymal injury). Subjects underwent formal neurologic examinations and a battery of standardized developmental, functional, and behavioral evaluations (mean age: 32.1 +/- 11.1 months). Autism-screening questionnaires were completed. RESULTS: Neurologic abnormalities were present in 66% of the isolated cerebellar hemorrhagic injury cases compared with 5% of the infants in the control group. Infants with isolated cerebellar hemorrhagic injury versus controls had significantly lower mean scores on all tested measures, including severe motor disabilities (48% vs 0%), expressive language (42% vs 0%), delayed receptive language (37% vs 0%), and cognitive deficits (40% vs 0%). Isolated cerebellar hemorrhagic injury was significantly associated with severe functional limitations in day-to-day activities. Significant differences were noted between cases of cerebellar hemorrhagic injury versus controls on autism screeners (37% vs 0%) and internalizing behavioral problems (34% vs 9%). Global developmental, functional, and social-behavioral deficits were more common and profound in preterm infants with injury to the vermis. Preterm infants with cerebellar hemorrhagic injury and supratentorial parenchymal injury were not at overall greater risk for neurodevelopmental disabilities, although neuromotor impairment was more severe. CONCLUSIONS: Cerebellar hemorrhagic injury in preterm infants is associated with a high prevalence of long-term pervasive neurodevelopment disabilities and may play an important and underrecognized role in the cognitive, learning, and behavioral dysfunction known to affect survivors.