1. Lee KS, Gau SS, Tseng WL. Autistic Symptoms, Irritability, and Executive Dysfunctions: Symptom Dynamics from Multi-Network Models. J Autism Dev Disord;2023 (Jul 15)

Socio-cognitive difficulties in individuals with autism spectrum disorder (ASD) are heterogenuous and often co-occur with irritability symptoms, such as angry/grouchy mood and temper outbursts. However, the specific relations between individual symptoms are not well-represented in conventional methods analyzing aggregated autistic symptoms and ASD diagnosis. Moreover, the cognitive-behavioral mechanisms linking ASD to irritability are largely unknown. This study investigated the dynamics between autistic (Social Responsiveness Scale) and irritability (Affective Reactivity Index) symptoms and executive functions (Cambridge Neuropsychological Test Automated Battery) in a sample of children and adolescents with ASD, their unaffected siblings, and neurotypical peers (N = 345, aged 6-18 years, 78.6% male). Three complementary networks across the entire sample were computed: (1) Gaussian graphical network estimating the conditional correlations between symptom nodes; (2) Relative importance network computing relative influence between symptoms; (3) Bayesian directed acyclic graph estimating predictive directionality between symptoms. Networks revealed numerous partial correlations within autistic (rs = .07-.56) and irritability (rs = .01-.45) symptoms and executive functions (rs = -.83 to .67) but weak connections between clusters. This segregated pattern converged in all directed and supplementary networks. Plausible predictive paths were found between social communication difficulties to autism mannerisms and between « angry frequently » to « lose temper easily. » Autistic and irritability symptoms are two relatively independent families of symptoms. It is unlikely that executive dysfunctions explain elevated irritability in ASD. Findings underscore the need for researching other mood and cognitive-behavioral bridge symptoms, which may inform individualized treatments for co-occurring irritability in ASD.

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2. Li YJ, Zhang K, Sun T, Guo YY, Yang Q, Liu SB, Wu YM, Zhao MG. Improvement of Learning and Memory by Elevating Brain D-Aspartate in a Mouse Model of Fragile X Syndrome. Mol Neurobiol;2023 (Jul 15)

Fragile X syndrome (FXS) is an inherited human mental retardation that arises from expansion of a CGG repeat in the Fmr1 gene, causing loss of the fragile X mental retardation protein (FMRP). It is reported that N-methyl-D-aspartate receptor (NMDAR)-mediated facilitation of long-term potentiation (LTP) and fear memory are impaired in Fmr1 knockout (KO) mice. In this study, biological, pharmacological, and electrophysiological techniques were performed to determine the roles of D-aspartate (D-Asp), a modulator of NMDAR, and its metabolizing enzyme D-aspartate oxidase (DDO) in Fmr1 KO mice. Levels of D-Asp were decreased in the medial prefrontal cortex (mPFC ); however, the levels of its metabolizing enzyme DDO were increased. Electrophysiological recordings indicated that oral drinking of D-Asp recovered LTP induction in mPFC from Fmr1 KO mice. Moreover, chronic oral administration of D-Asp reversed behavioral deficits of cognition and locomotor coordination in Fmr1 KO mice. The therapeutic action of D-Asp was partially through regulating functions of NMDARs and mGluR5/mTOR/4E-BP signaling pathways. In conclusion, supplement of D-Asp may benefit for synaptic plasticity and behaviors in Fmr1 KO mice and offer a potential therapeutic strategy for FXS.

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3. Marek S, Forbes G, Avery RA, Zanganeh T, Davidson S, DeCarlo E, Kumar P, Hammersmith K. Potential blindness from nutritional xerophthalmia in autistic patients. J aapos;2023 (Jul 13)

BACKGROUND: Vitamin A is vital to retinal rod function and epithelial cell differentiation. Although uncommon in the developed world, vitamin A deficiency (VAD) secondary to poor diets or gastrointestinal disease has been reported and can lead to xerophthalmia, which is characterized by night blindness and a spectrum of ocular surface changes. Patients with autism spectrum disorder have been shown to have restrictive diets secondary to sensory issues leading to rejection of foods except for those of certain color or texture. METHODS: We present a case series of 6 pediatric patients with autism who developed varying degrees of xerophthalmia due to VAD, which resulted from restrictive eating. RESULTS: All patients presented with a history of eye irritation that was not relieved by antibiotic or allergy eye drops. Further questioning revealed they had restrictive diets consisting of only or mostly white and tan foods, and serum vitamin A testing confirmed severe VAD. Most stages of xerophthalmia were completely reversed with vitamin A supplementation, but in 2 patients more advanced xerophthalmia resulted in irreversible blindness and ocular damage. CONCLUSIONS: Both pediatricians and pediatric eye care providers must be vigilant for VAD as an etiology of eye irritation, photophobia, or new-onset visual impairment in autistic children. A review of the child’s diet must be implemented as a standard part of routine history taken in this vulnerable population. Early identification and vitamin A supplementation can prevent irreversible ocular compromise and vision loss.

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