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Chromosome 1p32-p31 deletion syndrome, which is characterized by a variety of neurodevelopmental abnormalities, is thought to occur as a result of nuclear factor 1A (NFIA) haploinsufficiency. We present a case of a right-handed 40-year-old female with a 1p31.3 deletion, who exhibited numerous common features of this syndrome, in addition to treatment resistant schizoaffective disorder and possible temporal lobe epilepsy, making her presentation unique. While neither psychosis nor temporal lobe epilepsy has been described in this syndrome previously, these conditions likely occurred in our patient as a result of NFIA haploinsufficiency. [ABSTRACT FROM AUTHOR]

Objective: Prior research has suggested that treatment-resistant psychosis (TRP) may be a categorically distinct subtype from treatment-responsive psychotic disorders. However, relatively few studies have investigated the cognitive profile of individuals with TRP. Moreover, no prior studies have investigated the effectiveness of using the NIH Toolbox Cognition Battery (NTCB) for assessing cognition among psychiatric inpatients despite its promising efficiency and practicality in such settings. The current study aimed to investigate the validity of the NTCB and the associated cognitive profile of inpatients with TRP. Methods: Participants (N = 38) were administered the NTCB and a neuropsychological test battery. The Positive and Negative Syndrome Scale and the Routine Assessment of Patient Progress measured psychosis symptomatology and daily functioning, respectively. Results: Results showed deficits relative to normative values in fluid cognitive abilities using the NTCB, as predicted. There was strong convergent validity and adequate divergent validity between the NTCB subtests and corresponding neuropsychological measures, though no NTCB subtest correlated with performance on the Wisconsin Card Sorting Task. NTCB performance correlated with positive and disorganized symptoms of psychosis as well as daily functioning. Conclusions: Taken together, the NTCB appears to be a relatively strong tool for cognitive screening among psychiatric inpatients and may be used to identify which patients might benefit from further neuropsychological evaluation. [ABSTRACT FROM AUTHOR]

Psychiatric symptoms are common manifestations in many inborn errors of metabolism (IEMs), ranging from attention deficit, anxiety and mood and behavioral disorders to psychosis. Furthermore, IEMs represent a significant percentage of all autism cases. We reviewed and updated the list of metabolic disorders known to be associated with various psychiatric manifestations and found more than 100 relevant IEMs. This represents the third of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to organ system involvement. [ABSTRACT FROM AUTHOR]

In phonological dyslexia, nonword reading is impaired while the reading of both regular and irregular words is preserved. Many phonological dyslexics are able to repeat the same nonwords that they are unable to read. This constellation of abilities and deficits has been interpreted as the result of impairment in the ability to translate orthography to phonology, as distinct from the impairment of orthography or phonology themselves. If this interpretation is correct, then the brain must contain some tissue that is dedicated to this reading-specific ability, that is, tissue which is necessary for this and only this ability. This, in turn, implies that school-age learning can determine the existence and nature of anatomically separate (hence selectively lesionable) neural systems. Our interest in this issue has led us to consider an alternative explanation of phonological dyslexia, according to which it results from a general (i.e. not reading-specific) impairment of phonological representation. We explain how a patient with apparently good nonword repetition might nevertheless have a general impairment of phonological representation that affects nonword reading, and we test this explanation with one such patient. We also discuss the evidence for and against this hypothesis available in other published cases of dissociated nonword reading and repetition. [ABSTRACT FROM AUTHOR]

The implementation of pharmacogenomic (PGx) testing in psychiatry remains modest, in part due to divergent perceptions of the quality and completeness of the evidence base and diverse perspectives on the clinical utility of PGx testing among psychiatrists and other healthcare providers. Recognizing the current lack of consensus within the field, the International Society of Psychiatric Genetics assembled a group of experts to conduct a narrative synthesis of the PGx literature, prescribing guidelines, and product labels related to psychotropic medications as well as the key considerations and limitations related to the use of PGx testing in psychiatry. The group concluded that to inform medication selection and dosing of several commonly-used antidepressant and antipsychotic medications, current published evidence, prescribing guidelines, and product labels support the use of PGx testing for 2 cytochrome P450 genes ( CYP2D6, CYP2C19 ). In addition, the evidence supports testing for human leukocyte antigen genes when using the mood stabilizers carbamazepine ( HLA-A and HLA-B ), oxcarbazepine ( HLA-B ), and phenytoin (CYP2C9, HLA-B). For valproate, screening for variants in certain genes ( POLG, OTC, CSP1 ) is recommended when a mitochondrial disorder or a urea cycle disorder is suspected. Although barriers to implementing PGx testing remain to be fully resolved, the current trajectory of discovery and innovation in the field suggests these barriers will be overcome and testing will become an important tool in psychiatry., Competing Interests: Dr. Bousman reports a grant from Alberta Innovates Strategic Research Project G2018000868, during the conduct of the study; and he has received in-kind testing kits from Myriad Neuroscience, CNSDose, Genomind, and AB-Biotics for research purposes but has not received payments or received any equity, stocks, or options in these companies or any other pharmacogenetic companies. Dr. Bengesser has nothing to disclose. Dr. Aitchison reports grants from Alberta Innovates Strategic Research Project G2018000868, other from Neuroscience and Mental Health Institute, other from Department of Psychiatry, during the conduct of the study; non-financial support from HLS Therapeutics, grants from Janssen Inc., Canada, outside the submitted work; and Member, Pharmacogene Variation Consortium (PharmVar); Coauthor, Haplotype Translators for CYP2D6 and CYP2C19; Member, Alberta Cannabis Research and Innovation Network; Member, Schizophrenia Society of Alberta; Board Member, Canadian Consortium for Early Intervention in Psychosis. Dr. Amare has nothing to disclose. Dr. Aschauer has nothing to disclose. Dr. Baune has nothing to disclose. Ms. Behroozi Asl reports grants from Alberta Innovates, during the conduct of the study. Dr. Bishop reports personal fees from OptumRx, outside the submitted work; and he is a member of the Clinical Pharmacogenetics Implementation Consortium. Dr. Burmeister reports personal fees from Chinese University of Hong Kong (Shen Zhen), personal fees from Research Grants Council (RGC) of Hong Kong, personal fees from Alexander von Humboldt Foundation, outside the submitted work. Dr. Chaumette reports personal fees from Janssen-Cilag, grants from Fondation Bettencourt-Schueller, outside the submitted work. Dr. Chen has nothing to disclose. Dr. Cordner has nothing to disclose. Dr. Deckert reports grants from DFG, grants from BMBF, grants from Vogel-Foundation, grants from EU, grants from Bavarian Secretary of Commerce, outside the submitted work. Dr. Degenhardt has nothing to disclose. Dr. DeLisi has nothing to disclose. Dr. Folkersen has nothing to disclose. Dr. Kennedy has a patent 'PGx of Antipsychotic Response'; and 'PGx of Wt Gain' both pending. No licensees. Dr. Kennedy's affiliated hospital, (which is not his employer) the Centre for Addiction and Mental Health, is a part owner of the Canadian subsidiary of Myriad Neuroscience, USA. Dr. Klein reports grants from NIH/NHGRI, during the conduct of the study. Dr. McClay has nothing to disclose. Dr. McMahon has nothing to disclose. Dr. Musil reports personal fees from Otsuka/Lundbeck, outside the submitted work. Dr. Saccone reports that her spouse is listed as an inventor on Issued U.S. Patent 8,080,371, “Markers for Addiction” covering the use of certain single nucleotide polymorphisms in determining the diagnosis, prognosis, and treatment of addiction. Dr. Sangkuhl reports grants from NIH/NHGRI, during the conduct of the study. Dr. Stowe has nothing to disclose. Dr. Tan has nothing to disclose. Dr. Tiwari reports that he is a co-investigator on two pharmacogenetic studies where genetic test kits were provided as in-kind contribution by Assurex Health (Myriad Neuroscience) but he did not receive any payments or any equity, stocks, or options from this company or any other pharmacogenetic companies. Dr. Tiwari is also a co-inventor on a patent assessing risk for antipsychotic-induced weight gain. Dr. C. Zai has a patent for suicide markers issued, and a patent for antipsychotic-induced weight gain markers pending. Dr. G. Zai has nothing to disclose. Dr. Zhang has nothing to disclose. Dr. Gaedigk has nothing to disclose. Dr. Müller reports to be a co-investigator on two pharmacogenetic studies where genetic test kits were provided as in-kind contribution by Myriad Neuroscience. He did not receive any payments or any equity, stocks, or options from any pharmacogenetic companies. Dr. Müller is also a co-inventor on two patent assessing risk for antipsychotic-induced weight gain (pending)., (Thieme. All rights reserved.)

In this study, we report the case of a patient experiencing hallucinations of faces that could be reliably precipitated by looking at trees. Using functional Magnetic Resonance Imaging (fMRI), we found that face hallucinations were associated with increased and decreased neural activity in a number of cortical regions. Within the same fusiform face area, however, we found significant decreased and increased neural activity according to whether the patient was experiencing hallucinations or veridical perception of faces, respectively. These findings may indicate key differences in how hallucinatory and veridical perceptions lead to the same phenomenological experience of seeing faces.