Profound Autism: An Imperative Diagnosis.

Profound autism refers to a subset of individuals with autism spectrum disorder who have an intellectual disability with an intelligence quotient less than 50 and minimal-to-no language and require 24-hour supervision and assistance with activities of daily living. The general pediatrician will invariably work with autistic children across the spectrum and will likely encounter youth with profound autism. Awareness of profound autism as a real entity describing autistic children with concomitant intellectual disability and language impairment who require 24-hour care is the first step in developing a solid pediatric home for these youth.

Intellectual and Developmental Disability Research: Success Through Inclusion and Equity.

"Toward Equity in Research on Intellectual and Developmental Disabilities" (IDD) is a timely and comprehensive article highlighting gaps in the "dominant culture" approach to current research strategies designed to address IDD. Recentering systems involved in the research enterprise are recommended. This commentary provides additional guidance from a social justice, equity, and inclusion lens, including a clinical anthropology approach to research.

Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function.

Nail-Patella syndrome (NPS) is an autosomal dominant disorder that is the result of heterozygous loss-of-function mutations in LMX1B, coding for a LIM homeobox (LIM-HD) transcription factor. Analyses of lmx1b mutant mice have revealed the role of Lmx1b in the development of mesencephalic dopaminergic neurons and the serotonergic system; these areas have been linked with symptoms of attention deficit hyperactivity disorder (ADHD) and major depressive disorder (MDD). Fifty adults (38 females, 12 males) with NPS completed the Conners' Adult ADHD Rating Scales-Self-report: Long Version (CAARS) and Beck Depression Inventory-II (BDI-II). The objective was to describe the neurobehavioral phenotype of these subjects and examine possible relationships between neurobehavioral symptoms and NPS. Elevated levels of DSM-IV-TR ADHD Inattentive symptoms were reported on the CAARS by 22% of the NPS sample. The BDI-II Total score was elevated for 40% of the NPS sample. There was a significant increase in the odds of an elevated BDI-II Total score when any of the three CAARS scales were elevated (odds ratios ranging from 11.455 to 15.615). The CAARS and BDI-II did not significantly differ with gender, age, or education level. There was no significant association between genetic mutation-predicted protein status and elevations on CAARS or BDI-II. Individuals with NPS reported co-occurring symptoms of ADHD and MDD, with higher levels of co-occurrence than reported in the literature for the general population. The co-occurrence of these symptoms may be related to mesencephalic dopaminergic neurologic pathway abnormalities that are a consequence of LMX1B loss of function.

Acute myeloid leukaemia arising from a patient with untreated essential thrombocythaemia.

Acute myeloid leukaemia (AML) is an uncommon complication of patients with essential thrombocythaemia (ET). We report a patient with ET which progressed into AML and who had only received a few days of therapy with hydroxyurea (HU) when diagnosed with ET. This is extremely rare, as in large series no patients who were left untreated for their ET developed this complication. This case supports the theory that AML transformation can be part of the natural history of ET in some cases.