Parental Burden and its Correlates in Families of Children with Autism Spectrum Disorder: A Multicentre Study with Two Comparison Groups.

BACKGROUND: The effects of having a child with Autism Spectrum Disorder (ASD) on parents are multifaceted and pervasive. While ample evidence has been provided that these families are under severe stress, there are still several knowledge gaps and unresolved questions. OBJECTIVE: This study aimed at quantifying the subjective and objective burden of ASD in mothers and fathers, and at improving the understanding of the interplay between parental burden, child's characteristics, and parents' coping resources and strategies. METHODS: The parents of 359 children/adolescents with ASD were compared to parents of age-matched patients with Down syndrome (N=145) and Type 1 diabetes mellitus (N=155). Child's clinical characteristics and parents' caregiving burden, psychological distress, coping resources and strategies were assessed. RESULTS: The parents of children with ASD reported higher objective and subjective burden, more frequent psychological distress, lower social support. Mothers reported greater subjective burden than fathers. Structural equation modeling showed that the most consistent positive and negative predictors of objective and subjective burden were ASD symptom severity and social support, respectively. Other positive predictors were engagement, distraction and disengagement coping, intellectual disability, and adaptive functioning. Other negative predictors were spiritual wellbeing and hardiness. Some effects were indirect through social support and coping strategies. CONCLUSION: This study confirmed that parents of children with ASD carry a huge caregiving burden, and added to our understanding of the factors associated with burden. The findings may help inform the design of effective interventions aimed at reducing burden among the parents of children with ASD.

The Effect of Experimental Supplementation with the Klamath Algae Extract Klamin on Attention-Deficit/Hyperactivity Disorder.

Attention-deficit/hyperactivity disorder (ADHD) is a chronic neurobiological condition with onset in childhood. The disorder is characterized by inattention, impulsivity, and/or motor hyperactivity, which often affect the development and social integration of affected subjects. Phenylethylamine (PEA), naturally contained in the Klamath Lake microalgae and concentrated in the Klamin® extract, is an endogenous molecule with a general neuromodulatory activity. It functions as an activator for the neurotransmission of dopamine and other catecholamines, and very low concentrations of PEA may be associated with specific psychological disorders such as ADHD. The aim of our study was to evaluate the efficacy of the Klamin extract in treating a group of subjects diagnosed with ADHD. Thirty subjects, aged 6-15, who had been diagnosed with ADHD according to the DSM-IV TR criteria, were enrolled. The supplement was administered to all the subjects, who reported to an ADHD clinic for routine follow-up visits. Observations were made and data collected over a 6-month period. After 6 months of therapy the subjects appeared to show significant improvements based on assessments of their overall functioning, behavioral aspects related to inattention and hyperactivity-impulsivity, attention functions in both the selective and sustained component and executive functions. The study appears to confirm the initial hypothesis that the Klamin extract may positively affect the expression of ADHD symptoms. Additional larger studies on the effects of Klamin on ADHD are needed to further investigate the potential of this extract in ADHD treatment.

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Mutations in nuclear genes associated with defective complex III (cIII) of the mitochondrial respiratory chain are rare, having been found in only two cIII assembly factors and, as private changes in single families, three cIII structural subunits. Recently, human LYRM7/MZM1L, the ortholog of yeast MZM1, has been identified as a new assembly factor for cIII. In a baby patient with early onset, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle, we identified a disease-segregating homozygous mutation (c.73G>A) in LYRM7/MZM1L, predicting a drastic change in a highly conserved amino-acid residue (p.Asp25Asn). In a mzm1Δ yeast strain, the expression of a mzm1(D25N) mutant allele caused temperature-sensitive respiratory growth defect, decreased oxygen consumption, impaired maturation/stabilization of the Rieske Fe-S protein, and reduced complex III activity and amount. LYRM7/MZM1L is a novel disease gene, causing cIII-defective, early onset, severe mitochondrial encephalopathy.