Cognitive endophenotypes of attention deficit/hyperactivity disorder and intra-subject variability in patients with autism spectrum disorder

Biscaldi, Monica; Bednorz, N.; Weissbrodt, K.; Saville, Christopher W. N.; Feige, Bernd; Bender, Stephan; Klein, Christoph

doi:10.1016/j.biopsycho.2016.04.064

Cited by 14 publications

(27 citation statements)

References 52 publications

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“…These data are in line with attentional and cognitive features in developmental diseases, including ADHD and ASD syndromes. 33 , 34 In the fear conditioning test, the baseline levels of immobility during habituation to the conditioning cages was lower in Ptchd1 mutants as compared with WT ( P <0.01), supporting the hyperactivity observed in the other behavioural tests ( Figure 3h ). When animals were tested 24 h after conditioning either in the same context or in a new one, Ptchd1 −/y males showed significantly decreased contextual freezing performance ( P <0.01) and tended to have decreased cued freezing performance ( P =0.07; Figure 3h ).…”

Section: Resultssupporting

confidence: 58%

“…We replicated cognitive deficits (fear conditioning deficits) previously reported 13 and also found working memory deficits, which is supposed to be an attentional-dependent ability, altered in ADHD/ASD conditions. 33 , 34 Finally our data evidenced for the first time that Ptchd1 deletion in female mice also caused ADHD-like hyperactive behaviour and learning and memory deficits.…”

Section: Discussionsupporting

confidence: 53%

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Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

et al. 2017

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Synapse development and neuronal activity represent fundamental processes for the establishment of cognitive function. Structural organization as well as signalling pathways from receptor stimulation to gene expression regulation are mediated by synaptic activity and misregulated in neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability (ID). Deleterious mutations in the PTCHD1 (Patched domain containing 1) gene have been described in male patients with X-linked ID and/or ASD. The structure of PTCHD1 protein is similar to the Patched (PTCH1) receptor; however, the cellular mechanisms and pathways associated with PTCHD1 in the developing brain are poorly determined. Here we show that PTCHD1 displays a C-terminal PDZ-binding motif that binds to the postsynaptic proteins PSD95 and SAP102. We also report that PTCHD1 is unable to rescue the canonical sonic hedgehog (SHH) pathway in cells depleted of PTCH1, suggesting that both proteins are involved in distinct cellular signalling pathways. We find that Ptchd1 deficiency in male mice (Ptchd1−/y) induces global changes in synaptic gene expression, affects the expression of the immediate-early expression genes Egr1 and Npas4 and finally impairs excitatory synaptic structure and neuronal excitatory activity in the hippocampus, leading to cognitive dysfunction, motor disabilities and hyperactivity. Thus our results support that PTCHD1 deficiency induces a neurodevelopmental disorder causing excitatory synaptic dysfunction.

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Section: Resultssupporting

confidence: 58%

Section: Discussionsupporting

confidence: 53%

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

et al. 2017

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“…The mean and the standard deviation of the Gaussian part are denoted µ and σ, while the exponential part is reflected by the parameter τ, which is closely related to the thickness of the tail and characterizes rather long RTs (for a more detailed description and a graphical illustration see [15], p. 429). This model has repeatedly been shown to adequately describe empirical data in a number of paradigms [16,17] and to differentiate clinical groups with increased ISV from controls [14,18]. Less clear, however, is the theoretical interpretation of the ex-Gaussian parameters.…”

Section: Introductionmentioning

confidence: 98%

Predicting Fluid Intelligence by Components of Reaction Time Distributions from Simple Choice Reaction Time Tasks

et al. 2016

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Mean reaction times (RT) and the intra-subject variability of RT in simple RT tasks have been shown to predict higher-order cognitive abilities measured with psychometric intelligence tests. To further explore this relationship and to examine its generalizability to a sub-adult-aged sample, we administered different choice RT tasks and Cattell's Culture Fair Intelligence Test (CFT 20-R) to n = 362 participants aged eight to 18 years. The parameters derived from applying Ratcliff's diffusion model and an ex-Gaussian model to age-residualized RT data were used to predict fluid intelligence using structural equation models. The drift rate parameter of the diffusion model, as well as σ of the ex-Gaussian model, showed substantial predictive validity regarding fluid intelligence. Our findings demonstrate that stability of performance, more than its mere speed, is relevant for fluid intelligence and we challenge the universality of the worst performance rule observed in adult samples.

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“…Cognitive decline with the age, both in the normal aging and in the pathological manifestations in form of dementia, is an important public health and social challenge. Individual variability of cognitive functions is an important endophenotype of many neurodegenerative, psychiatric, and mental diseases, such as schizophrenia (SZ) [ 1 ], Alzheimer's diseases (AD) [ 2 ], bipolar disorder [ 3 ], and attention-deficit hyperactivity disorder [ 4 ]. Recent genome-wide association studies (GWAS) have revealed dozens of single nucleotide polymorphisms (SNPs) associated with a cognitive performance in SZ or AD patients, as well as in normal healthy subjects [ 5 – 10 ].…”

Section: Introductionmentioning

confidence: 99%

Analysis of Association of Genetic Markers in the LUZP2 and FBXO40 Genes with the Normal Variability in Cognitive Performance in the Elderly

Степанов

Вагайцева

Бочарова

et al. 2018

International Journal of Alzheimer's Disease

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Cognitive performance is an important endophenotype for various neurodegenerative and neuropsychiatric traits. In the present study two genetic variants in the leucine-zipper protein (LUZP2) and the F-box 40 protein (FBXO40) genes, previously reported to be genome-wide significant for Alzheimer's diseases and schizophrenia, were examined for an association with cognitive abilities in normal elderly from the Russian population. Rs1021261 in the LUZP2 and rs3772130 in the FBXO40 were genotyped by multiplex PCR and MALDI-TOF mass spectrometry in a sample of 708 normal elderly subjects tested for cognitive performance using the Montreal Cognitive Assessment (MoCA). Association of genetic variability with the MoCA scores was estimated by parametric and nonparametric analysis of variance and by the frequency comparison between upper and lower quartiles of MoCA distribution. Significantly higher frequency of “TT” genotype of rs1021261 in the LUZP2 gene as well as “A” allele and “AA” genotype of rs3772130 in the FBXO40 gene was found in a subsample of individuals with the MoCA score less than 20 comparing to the fourth quartile's subsample (MoCA > 25). The data of the present study suggests that genetic variability in the LUZP2 and FBXO40 loci associated with neurodegenerative and neuropsychiatric diseases is also contributed to the normal variability in cognitive performance in the elderly.

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Cognitive endophenotypes of attention deficit/hyperactivity disorder and intra-subject variability in patients with autism spectrum disorder

Cited by 14 publications

References 52 publications

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

Predicting Fluid Intelligence by Components of Reaction Time Distributions from Simple Choice Reaction Time Tasks

Analysis of Association of Genetic Markers in the LUZP2 and FBXO40 Genes with the Normal Variability in Cognitive Performance in the Elderly

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