Certain inborn errors of metabolism have been suggested to increase the risk of autistic behavior. In an animal model, propionic acid ingestion triggered abnormal behavior resembling autism. So far only a few cases were reported with propionic acidemia and autistic features. From a series of twelve consecutively diagnosed cases with propionic acidemia, we report on eight patients with autistic features. The patients were followed 2-4 times a year and underwent regular clinical, dietary and laboratory investigations. Psychological evaluation was performed every second to fourth year. All patients were compliant with the standard diet and carnitine supplementation. None of the patients had frequent metabolic decompensations. From the metabolic factors known to impact neuropsychological outcome we detected chronically decreased valine levels and altered valine to leucine ratios in five out of the eight patients. Recurrent lactic acid elevations were present in six out of the eight patients. Five of the eight patients were diagnosed with Autism Spectrum Disorder, four of them had pathogenic variants in PCCB. Disorder according to DSM-IV and/or DSM-5 criteria. One of the patients diagnosed with propionic acidemia by newborn screening had the most significant behavioral features and another was diagnosed with Autism Spectrum Disorder prior to propionic acidemia. We hypothesize that chronic suboptimal intracellular metabolic balance may be responsible for the increased risk for autistic features in propionic acidemia. We propose that patients diagnosed with propionic acidemia should be screened for Autism Spectrum Disorder.
Human infants form attachments to their caregivers gradually over the course of the first year of life. Qualitatively different types of attachments, which can be identified by the end of the first year, are broadly predictive of subsequent adaptive outcomes for young children. "Disorganized" patterns of attachment have the strongest links to concurrent and subsequent psychopathology, and considerable research has demonstrated both within-the-child and environmental correlates of disorganized attachment. Clinical disorders of attachment have been demonstrated to arise under conditions of social deprivation, such as institutionalization and maltreatment. An emotionally withdrawn/inhibited pattern and an indiscriminate/disinhibited pattern both have been described. Although these clinical types arise under similar conditions of environmental adversity, they tend to have different courses over time. We describe recent findings and highlight areas of emerging consensus and areas of continuing controversy regarding both disorganized patterns of attachment and clinical disorders of attachment in young children.
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