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Review
, 7 (6), 499-511

Recommendations for the Detection and Diagnosis of Niemann-Pick Disease Type C: An Update

Affiliations
Review

Recommendations for the Detection and Diagnosis of Niemann-Pick Disease Type C: An Update

Marc C Patterson et al. Neurol Clin Pract.

Abstract

Purpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice.

Recent findings: New biomarker profiling and genetic analysis technologies are included as first-line diagnostic tests for NP-C. Most diagnoses can now be confirmed by combination of biomarker and genetic analyses. Filipin staining may facilitate diagnosis in uncertain cases. Recommendations are provided for psychiatrists, neuro-ophthalmologists, and radiologists, and on screening within specific at-risk patient cohorts. The NP-C diagnostic algorithm has been updated and simplified.

Summary: This publication provides expert recommendations for clinicians who may see patients presenting with the signs and symptoms of NP-C, including general practitioners, pediatricians, neurologists, and psychiatrists.

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Review
, 33 (5), 877-890

The Hidden Niemann-Pick Type C Patient: Clinical Niches for a Rare Inherited Metabolic Disease

Affiliations
Review

The Hidden Niemann-Pick Type C Patient: Clinical Niches for a Rare Inherited Metabolic Disease

Christian J Hendriksz et al. Curr Med Res Opin.

Abstract

Background: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C. Patients in these at-risk groups ("clinical niches") have symptoms that are potentially related to NP-C, but go unrecognized due to other, more prevalent clinical features, and lack of awareness regarding underlying metabolic causes.

Methods: Twelve potential clinical niches identified by clinical experts were evaluated based on a comprehensive, non-systematic review of literature published to date. Relevant publications were identified by targeted literature searches of EMBASE and PubMed using key search terms specific to each niche. Articles published in English or other European languages up to 2016 were included.

Findings: Several niches were found to be relevant based on available data: movement disorders (early-onset ataxia and dystonia), organic psychosis, early-onset cholestasis/(hepato)splenomegaly, cases with relevant antenatal findings or fetal abnormalities, and patients affected by family history, consanguinity, and endogamy. Potentially relevant niches requiring further supportive data included: early-onset cognitive decline, frontotemporal dementia, parkinsonism, and chronic inflammatory CNS disease. There was relatively weak evidence to suggest amyotrophic lateral sclerosis or progressive supranuclear gaze palsy as potential niches.

Conclusions: Several clinical niches have been identified that harbor patients at increased risk of NP-C.

Keywords: Clinical niche; Diagnosis; Differential diagnosis; Epidemiology; Inborn errors of metabolism (IEM); Niemann-Pick disease type C (NP-C); Screening.

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Observational Study
, 20 (4), 310-319

Psychiatric and Neurological Symptoms in Patients With Niemann-Pick Disease Type C (NP-C): Findings From the International NPC Registry

Affiliations
Observational Study

Psychiatric and Neurological Symptoms in Patients With Niemann-Pick Disease Type C (NP-C): Findings From the International NPC Registry

Olivier Bonnot et al. World J Biol Psychiatry.

Erratum in

  • Corrigendum
    World J Biol Psychiatry 20 (4), I. PMID 29172938.

Abstract

Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This study describes NP-C patients who had psychiatric manifestations at enrolment in the international NPC Registry, a unique multicentre, prospective, observational disease registry. Methods: Treating physicians' data entries describing psychiatric manifestations in NPC patients were coded and grouped by expert psychiatrists. Results: Out of 386 NP-C patients included in the registry as of October 2015, psychiatric abnormalities were reported to be present in 34% (94/280) of those with available data. Forty-four patients were confirmed to have identifiable psychiatric manifestations, with text describing these psychiatric manifestations. In these 44 patients, the median (range) age at onset of psychiatric manifestations was 17.9 years (2.5-67.9; n = 15), while the median (range) age at NP-C diagnosis was 23.7 years (0.2-69.8; n = 34). Almost all patients (43/44; 98%) had an occurrence of ≥1 neurological manifestation at enrolment. Conclusions: These data show that substantial delays in diagnosis of NP-C are long among patients with psychiatric symptoms and, moreover, patients presenting with psychiatric features and at least one of cognitive impairment, neurological manifestations, and/or visceral symptoms should be screened for NP-C.

Keywords: Niemann-Pick disease type C; Psychosis; genetics; registry; schizophrenia.

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, 20 (4), 320-332

Systematic Review of Psychiatric Signs in Niemann-Pick Disease Type C

Affiliations

Systematic Review of Psychiatric Signs in Niemann-Pick Disease Type C

Olivier Bonnot et al. World J Biol Psychiatry.

Abstract

Objectives: We conducted the first systematic literature review and analysis of psychiatric manifestations in Niemann-Pick disease type C (NPC) to describe: (1) time of occurrence of psychiatric manifestations relative to other disease manifestations; and (2) frequent combinations of psychiatric, neurological and visceral disease manifestations. Methods: A systematic EMBase literature search was conducted to identify, collate and analyze published data from patients with NPC associated with psychiatric symptoms, published between January 1967 and November 2015. Results: Of 152 identified publications 40 were included after screening that contained useable data from 58 NPC patients (mean [SD] age at diagnosis of NPC 27.8 [15.1] years). Among patients with available data, cognitive, memory and instrumental impairments were most frequent (90% of patients), followed by psychosis (62%), altered behavior (52%) and mood disorders (38%). Psychiatric manifestations were reported before or at neurological disease onset in 41 (76%) patients; organic signs (e.g., hepatosplenomegaly, hearing problems) were reported before psychiatric manifestations in 12 (22%). Substantial delays to diagnosis were observed (5-6 years between psychiatric presentation and NPC diagnosis). Conclusions: NPC should be considered as a possible cause of psychiatric manifestations in patients with an atypical disease course, acute-onset psychosis, treatment failure, and/or certain combinations of psychiatric/neurological/visceral symptoms.

Keywords: Niemann-Pick disease type C; psychiatric; psychosis; systematic review; treatment.

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Review
, 9, 65

Diagnostic and Treatment Implications of Psychosis Secondary to Treatable Metabolic Disorders in Adults: A Systematic Review

Affiliations
Review

Diagnostic and Treatment Implications of Psychosis Secondary to Treatable Metabolic Disorders in Adults: A Systematic Review

Olivier Bonnot et al. Orphanet J Rare Dis.

Abstract

Objective: It is important for psychiatrists to be aware of certain inborn errors of metabolism (IEMs) as these rare disorders can present as psychosis, and because definitive treatments may be available for treating the underlying metabolic cause. A systematic review was conducted to examine IEMs that often present with schizophrenia-like symptoms.

Data sources: Published literature on MEDLINE was assessed regarding diseases of homocysteine metabolism (DHM; cystathionine beta-synthase deficiency [CbS-D] and homocysteinemia due to methyltetrahydrofolate reductase deficiency [MTHFR-D]), urea cycle disorders (UCD), acute porphyria (POR), Wilson disease (WD), cerebrotendinous-xanthomatosis (CTX) and Niemann-Pick disease type C (NP-C).

Study selection: Case reports, case series or reviews with original data regarding psychiatric manifestations and cognitive impairment published between January 1967 and June 2012 were included based on a standardized four-step selection process.

Data extraction: All selected articles were evaluated for descriptions of psychiatric signs (type, severity, natural history and treatment) in addition to key disease features.

Results: A total of 611 records were identified. Information from CbS-D (n = 2), MTHFR-D (n = 3), UCD (n = 8), POR (n = 12), WD (n = 11), CTX (n = 14) and NP-C publications (n = 9) were evaluated. Six non-systematic literature review publications were also included. In general, published reports did not provide explicit descriptions of psychiatric symptoms. The literature search findings are presented with a didactic perspective, showing key features for each disease and psychiatric signs that should trigger psychiatrists to suspect that psychotic symptoms may be secondary to an IEM.

Conclusion: IEMs with a psychiatric presentation and a lack of, or sub-clinical, neurological signs are rare, but should be considered in patients with atypical psychiatric symptoms.

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Review
, 9, 177
eCollection

Secondary Psychosis Induced by Metabolic Disorders

Affiliations
Review

Secondary Psychosis Induced by Metabolic Disorders

Olivier Bonnot et al. Front Neurosci.

Abstract

Metabolic disorders are not well-recognized by psychiatrists as a possible source of secondary psychoses. Inborn errors of metabolism (IEMs) are not frequent. Although their prompt diagnosis may lead to suitable treatments. IEMs are well-known to pediatricians, in particular for their most serious forms, having an early expression most of the time. Recent years discoveries have unveiled later expression forms, and sometimes very discreet first physical signs. There is a growing body of evidence that supports the hypothesis that IEMs can manifest as atypical psychiatric symptoms, even in the absence of clear neurological symptoms. In the present review, we propose a detailed overview at schizophrenia-like and autism-like symptoms that can lead practitioners to bear in mind an IEM. Other psychiatric manifestations are also found, as behavioral, cognitive, learning, and mood disorders. However, they are less frequent. Ensuring an accurate IEM diagnosis, in front of these psychiatric symptoms should be a priority, in order to grant suitable and valuable treatment for these pathologies.

Keywords: IEMs; atypicalness; homocysteine; neurometabolic disorders; organic psychosis; schizophrenia-like; urea.

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, 22 (1), 92-7

[Improve Safety Monitoring of Antipsychotics in the French Pediatric Population]

[Article in French]
Affiliations

[Improve Safety Monitoring of Antipsychotics in the French Pediatric Population]

[Article in French]
M-L Menard et al. Arch Pediatr.

Abstract

In France, as in the rest of the world, the prescription of second generation antipsychotics is on the rise in the pediatric population. At the same time, the use of first generation antipsychotics continues, although it is declining in France as in other countries. In France, we lack data on the pediatric population to ensure a safe prescription, unlike other countries such as Canada and the United States. This is disturbing when many adverse events, potentially serious for young patients' health (neuromuscular complications, risk factors, cardiovascular problems) are beginning to be identified. This article reports the current French and international knowledge on antipsychotics in the pediatric population. It appears that data in the French population are nearly nonexistent and that the methodological tools used are not always relevant (population already exposed to psychotropic drugs, short studies, debatable rating scale and somatic parameters). Within this context, a safety monitoring procedure for the naive pediatric population treated with antipsychotics was developed (ETAPE study) to determine the incidence of adverse events appearing with these drugs. Safety monitoring during the 12-month study period will include clinical assessments and laboratory testing. These assessments will be performed before treatment and at 1, 3, 6, 9, and 12 months after the introduction of the antipsychotic drug. This study received funding from the National Security Agency of Medicines (ANSM 2012 No. 40). The results should contribute to educating all practitioners (general physicians, pediatricians, psychiatrists, child psychiatrists) on adverse events, helping practitioners with prescribing decisions, reinforcing the French system of monitoring adverse events caused by atypical antipsychotic drugs, and developing recommendations to improve the safety of atypical antipsychotic drugs in child psychiatry.

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, 24 (1), 52-65

Health Care Trajectories for Children With ADHD in France: Results From the QUEST Survey

Affiliations

Health Care Trajectories for Children With ADHD in France: Results From the QUEST Survey

Hervé Caci et al. J Atten Disord.

Abstract

Objective: The objective of this study is to retrospectively describe the pathway toward ADHD diagnosis and treatment, and identify potential areas for improvement. Method: Parent-reported questionnaires were collected by a national sample of ADHD specialists. Results: In total, 473 complete questionnaires were analyzed. Initial onset of ADHD symptoms was reported at a mean age of 4.45 years. Mean age at diagnosis was 8.07 years, and half of the families had seen at least three health care professionals previously. Psychiatrists were most commonly consulted. A "combined" (89% boys) and inattentive (49% boys) profile was identified. Diagnosis was made 1 year later for the latter group. Two thirds of patients received pharmacological treatment. The delay in diagnosis was identified as the main source of concern for caregivers. Conclusion: The 4-year delay in diagnosis may represent a loss of opportunity. Training health care professionals in the core symptoms of ADHD may help reduce disparities and improve patient trajectory.

Keywords: ADHD; QUEST; children; diagnosis; health care; survey; treatment.

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Review
, 23 (2), 105-7

[Antiphospholipid Syndrome and Psychosis]

[Article in French]
Affiliations
  • PMID: 9264928
Review

[Antiphospholipid Syndrome and Psychosis]

[Article in French]
P Clervoy et al. Encephale.

Abstract

The authors studies literature on both psychiatrics manifestations in several auto-immune diseases like systemic lupus erythematosus and the antiphospholipid syndrome, and the impairment of immune functions in psychiatrics diseases. They try to expose the relevance of collaboration between Medical practitioners and psychiatrists to study the immunogenetic hypothesis of psychotic diseases.

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Comparative Study
, 158 (3), 356-62

Does Catatonia Influence the Phenomenology of Childhood Onset Schizophrenia Beyond Motor Symptoms?

Affiliations
Comparative Study

Does Catatonia Influence the Phenomenology of Childhood Onset Schizophrenia Beyond Motor Symptoms?

Olivier Bonnot et al. Psychiatry Res.

Abstract

Childhood onset schizophrenia (COS) and catatonia (C) are rare and severe psychiatric disorders. The aim of this study was to compare the phenomenology of COS with and without catatonia. We examined 33 cases consecutively referred to two major public university hospitals in Paris. There were 18 cases of COS (age=15.9+/-0.8 years) and 15 of COS+C (age=15.4+/-1.4 years). Patients were referred over the course of 3 and 9 years, respectively. Psychiatric assessment included socio-demographic, clinical and psychometric variables: the Brief Psychiatric Rating Scale (BPRS), the Scales for the Assessment of Positive (SAPS) and Negative Symptoms (SANS), and a catatonia rating scale. Patients with COS+C appeared to be more severely ill at admission and discharge compared with COS in nearly all clinical scores. They also exhibited significantly longer episode duration (50.8 weeks+/-4.8 vs 20.6+/-19.5). On the basis of multivariate logistic regression, the only clinical measure which significantly predicted group membership was the SANS Affective Flattening score (odds ratio=1.24; 95% CI=1.06-1.43). Our findings strongly suggest that catatonic COS differs from COS in ways that extend beyond motor symptoms. The SANS and SAPS scales, commonly used in schizophrenia, are not detailed enough to accurately describe catatonia in COS. The use of a catatonia rating scale is recommended to enhance recognition of and research into COS with catatonia.

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