bluuebunny/crossref_metadata_2025 huggingface dataset:
Brain Serotonin Deficiency
Authors: García-Cazorla Angels , Artuch Rafael
Published: September 2016

Brain serotonin deficiency is a heterogeneous condition whose etiology remains unknown in the majority of cases. Strong evidence supports a major role for brain serotonin deficiency in common conditions such as depression and other psychiatric and cognitive disorders, which are probably due to interactions between genetic and environmental factors. Mendelian monogenic conditions leading to brain serotonin deficiency have also been identified, but they are rare. These diseases are associated with defects in other neurotransmitters (primarily dopamine), and it is difficult to link serotonin deficiency with specific neurological syndromes. Secondary serotonin deficiency is also common. In adults, when serotonin deficiency is thought to contribute to neurological symptoms such as sleep disturbance and alterations in behavior, treatment with serotonin precursors may be useful.
Tangier Disease
Authors: Ng Dominic S.
Published: September 2016

Tangier disease is characterized by profound high-density lipoprotein (HDL) deficiency in association with accumulation of cholesterol esters in tissues, especially those of the reticuloendothelial system. Clinical signs include hyperplastic, yellow-orange colored tonsils, peripheral neuropathies, and hepatosplenomegaly. The disease is caused by two mutant alleles of the ABCA1 gene encoding ATP-binding cassette subfamily A member 1. Despite severe HDL deficiency, predisposition to accelerated coronary heart disease is highly variable in affected individuals. With the exception of tonsillectomy for severe hyperplastic tonsils and corneal transplantation in rare cases of severe corneal opacification, treatments for specific manifestations are largely ineffective.
Familial Apolipoprotein A-I Deficiency
Authors: Ng Dominic S.
Published: September 2016

Apolipoprotein (apo) A-I is the key structural protein of high-density lipoprotein (HDL) and is necessary for sustaining the circulating level of HDL. It has also been studied extensively for its role in mediating many of the antiatherosclerotic and antithrombotic properties of HDL. More than 50 naturally occurring mutations and variants have been described, and they usually result in marked HDL deficiency in a gene-dose dependent manner. However, the propensity to develop accelerated coronary heart disease (CHD) is highly heterogeneous. Mutations resulting in inability to synthesize apo A-I tend to be associated with early CHD, while mutations resulting in structurally altered apo A-I are generally not associated. Furthermore, a number of apo A-I variants, for example apo A-I Iowa or apo A-I Helsinki, have been linked to amyloidosis, resulting in potentially serious morbid complications.
Smith-Lemli-Opitz Syndrome
Authors: Cunniff Christopher , Hennekam Raoul C.
Published: September 2016

Smith-Lemli-Opitz syndrome (SLOS) is characterized by prenatal and postnatal growth retardation, characteristic face, genital and distal limb anomalies, and intellectual disability. There is a weak correlation between the metabolic disturbances with clinical severity and with genotype, but wide ranges exist within each group. SLOS is infrequently described in adults. The associated malformations are usually treated in infancy and childhood and have only limited influences in adulthood. Main physical problems are scoliosis and pectus formation, sun sensitivity, and disturbed hearing and vision. Rarely adrenal insufficiency is present. Marked cognitive impairment and behavioral problems including self-harm and aggressive outbursts may have a significant impact on quality of life. Cholesterol supplementation decreases sun sensitivity, but cognition and behavior seem to respond less well.
Mevalonate Kinase Deficiency
Authors: Frenkel Joost , Waterham Hans R.
Published: September 2016

Mevalonate kinase deficiency (MKD) is an autosomal recessive inborn error of isoprenoid biosynthesis, a pathway yielding sterols and nonsterol isoprenoids.

In patients, the enzyme activity of mevalonate kinase is severely reduced due to mutations in the encoding gene, MVK. The substrate, mevalonate, accumulates and is elevated in blood and urine. Shortage of certain downstream products of the pathway, nonsterol isoprenoids, leads to dysregulation of the innate immune system, activation of inflammasomes, and interleukin (IL)-1 mediated inflammation.

Symptoms start in early childhood with recurrent attacks of fever, vomiting, diarrhea, headache, sore throat, abdominal pain, arthralgias, painful lymphadenopathy, hepatosplenomegaly, skin rash, and mucosal ulcers. Severely affected patients have additional symptoms, such as intellectual impairment, progressive cerebellar ataxia, and tapetoretinal degeneration. Complications include intestinal obstruction, AA-amyloidosis, hemophagocytosis, and severe infection.

Management of MKD is directed at controlling inflammation.
Cerebrotendinous Xanthomatosis
Authors: Verrips Aad
Published: September 2016

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease due to a defect in bile acid metabolism. Worldwide, more than 300 patients have been described. Mutations in the CYP27A1 gene result in sterol 27-hydroxylase deficiency leading to the accumulation of cholestanol in multiple body tissues. Premature cataracts, chronic diarrhea, tendon xanthomas, and neurological deterioration are the predominant clinical features. There are several disease stages, from being nearly asymptomatic in the early childhood years to severe disability in later stages of life. Adult CTX patients are often misdiagnosed initially, especially when tendon xanthomasa are absent. CTX should be considered in all patients with premature cataracts and in patients with neurological features such as spasticity, early-onset dementia, ataxia, or Parkinsonism.
Niemann-Pick Disease Type B
Authors: Geberhiwot Tarekegn , Hollak Carla E. M.
Published: September 2016

Niemann-Pick disease type B (NPDB) is caused by deficient activity of sphingomyelin phosphodiesterase leading to the accumulation of sphingomyelin and other lipids, primarily within macrophages. The disease is characterised by hepatosplenomegaly, a bleeding tendency, interstitial lung disease and an atherogenic lipid profile. The diagnosis of NPDB is usually made in childhood after organomegaly is noted, and patients often survive into adulthood. The diagnostic work up includes enzymatic determination of sphingomyelinase activity, mutational analysis and screening and/or quantification for target organ involvement. NPDB has a variable clinical expression and may be a life-limiting disorder with significant morbidity and mortality. There is no disease specific therapy yet and hence management is symptomatic with particular attention to treating the long term complications of the disease.
Fabry Disease
Authors: West Michael , Linthorst Gabor
Published: September 2016

Fabry disease was initially believed to be a very rare disorder, but an increase in prevalence following screening studies revealed that it may be more frequent in a less severe (nonclassical) variant. The adult physician can encounter both phenotypes: classical disease arising in childhood, or after establishing the diagnosis in an adult male. The nonclassical phenotype is usually diagnosed after additional investigations in a patient with renal disease or left ventricular hypertrophy (LVH) of unknown origin. Enzyme replacement therapy (ERT) appears to have a modest effect in Fabry disease, and many challenges remain both in understanding the pathophysiology and natural history as well as in improving patient outcomes.
Krabbe Disease in Adults
Authors: Sedel Frédéric
Published: September 2016

Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease caused by mutations in the lysosomal galactocerebrosidase (galactosyl ceramidase) gene. Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. In contrast, adult patients usually present with progressive spastic paraparesis. Other signs of the disease include peripheral neuropathy, dysarthria, cerebellar ataxia, pes cavus deep sensory signs, tongue atrophy, optic neuropathy, cognitive decline. Cerebrospinal fluid protein concentration is moderately increased in adults. High signals of cortico-spinal tracts on brain MRI are highly suggestive and this typical aspect may be associated with hyper-intensities of optic radiations, and of the posterior part of the corpus callosum.
Metachromatic Leukodystrophy
Authors: Baumann Nicole , Turpin Jean-Claude
Published: September 2016

Metachromatic leukodystrophy can be observed in infantile, juvenile, and adult cases. It is due to deficiency of the enzyme sulfatide sulfatase arylsulfase A. The adult form includes two types—one characterized by predominantly central nervous system motor signs (mainly pyramidal and/or cerebellar) and a peripheral neuropathy, and the other presenting with behavioral abnormalities and progressive mental deterioration. Homozygosity for the P426L mutation is very frequent in motor forms of adult MLD and heterozygosity for the I179S is very frequently found in psychiatric forms. Hematopoietic stem cell transplantation or bone marrow transplantation is the only presently available therapy that attempts to treat the primary central nervous system manifestation of MLD, but substantial risk is involved and long-term effects are not clear. Potential therapeutic application of hematopoietic stem cell gene therapy and intracerebral gene transfer (brain gene therapy) are explored in infantile forms of patients with MLD.
Niemann-Pick Disease Type C
Authors: Sedel Frédéric
Published: September 2016

Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids, and other molecules, but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease characterized prominently by psychiatric disorders, cerebellar ataxia, cognitive decline, and vertical supranuclear gaze palsy. Miglustat is the only treatment approved to date which has been demonstrated to slow or halt disease progression.
Mucopolysaccharidosis in Adults
Authors: Hendriksz Christian J. , Karstens Francois
Published: September 2016

There are 8 different types of diseases of the mucopolysaccharides, each caused by a deficiency in one of 10 different enzymes involved in the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate within the lysosomes of many different cell types and lead to clinical symptoms and excretion of large amounts of GAGs in the urine. Heritability is autosomal recessive except for MPS type II, which is X-linked. The disorders are chronic and progressive and, although the specific types all have their individual features, they share an abundance of clinical similarities. All involve the musculoskeletal, the cardiovascular, the pulmonary and the central nervous system.
Danon Disease
Authors: Brusse Esther , Laforêt Pascal , van der Ploeg Ans T.
Published: September 2016

Danon disease, like Pompe disease, is a muscle disorder caused by a primary defect in lysosomal proteins. Danon disease (OMIM #300257) is an X-linked dominant disorder, with males being more severely affected than female carriers. In males, mean disease onset is in their early teens and in females in their late twenties. Clinical hallmarks are a severe cardiomyopathy, muscle weakness, and mild mental retardation. Retinal, liver, and pulmonary disease may also occur. Milder, sometimes isolated cardiac phenotypes without mental retardation are also described. Regular cardiac evaluation, even in asymptomatic patients, is obligatory.
Oligosaccharidoses
Authors: Federico Antonio , Palmeri Silvia
Published: September 2016

Oligosaccharidoses are a group of lysosomal diseases, also called glycoproteinoses, biochemically characterized by storage of protein-bound oligosaccharides within lysosomes and excretion with urine of corresponding sugars. Storage of oligosaccharides results from absence or defective function of a specific lysosomal enzyme. Classification includes α‎ and β‎ mannosidosis, fucosidosis, sialidosis types I and II, Schindler disease, and aspartylglycosaminuria. Galactosialidosis characterized by deficiency of β‎-galactosidase and α‎-neuraminidase with presence in patient urine of oligosaccharides has been included among oligosaccharidoses but may be better classified as a lysosomal enzyme protection defect disease in relation to its primary defect of cathepsine A-protective protein. The clinical spectrum of the diseases vary widely, as is common in lysosomal storage disorders. Patients frequently have neurological symptoms, but in rare cases presenting in adulthood symptoms may be very subtle. Psychiatric presentations have been described in adults. For adult cases, no treatments are available except for supportive care.
Cholesteryl Ester Storage Disease
Authors: Hollak Carla E. M.
Published: September 2016

Cholesteryl ester storage disease is a very rare lysosomal storage disorder that may present in an attenuated form in adult patients. This clinical phenotype is clearly distinguished from the aggressive form of cholesteryl ester storage disease known as Wolman disease with rapidly progressive, often fatal disease within the first year of life. Most patients with an attenuated form present with “fatty liver” due to the accumulation of cholesterol esters and triglycerides. Most have splenomegaly as well. Enzyme replacement therapy has been recently developed. The natural course of very mild cases and the risk of developing liver failure are currently unknown.
Nephropathic Cystinosis in Adults
Authors: Servais Aude
Published: September 2016

Cystinosis is an autosomal recessive lysosomal storage disorder caused by a defect in the carrier-mediated system that normally transports cystine out of lysosomes. As a consequence, tissues accumulate variable amounts of the disulphide amino acid cystine. Three overlapping clinical phenotypes are recognized, varying in severity and age of onset. The most severe, the infantile nephropathic form (MIM 219800), appears in the first year of life. The late-onset form (MIM 219900) is also nephropathic, while ocular, non-nephropathic cystinosis manifests largely with corneal crystal deposition (MIM 219750). Infantile cystinosis is the most common form. Affected children develop renal proximal tubulopathy at 6 to 12 months of age. In the absence of treatment, renal failure occurs, with progression to end-stage renal disease (ESRD). Cystine crystal deposition in the cornea leads to photophobia and continuous widespread cystine accumulation eventually leads to rickets, retinal, endocrinological (hypothyroidism and impaired glucose tolerance), hepatic, gastrointestinal, muscular, and neurological abnormalities.
X-linked Adrenoleukodystrophy
Authors: van Geel Björn M. , Engelen Marc , Kemp Stephan
Published: September 2016

X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder. Hallmarks are increased levels of plasma very long-chain fatty acids (VLCFA), mutations in the ABCD1 gene, impaired function of ALD-protein and, consequently, decreased import of VLCFA-CoA esters in peroxisomes and VLCFA beta-oxidation. Cerebral demyelination and axonal degeneration of the spinal cord are the main causes of neurological deficits. Endocrine dysfunction, particularly adrenocortical insufficiency, is very frequent. Based upon the age of onset of symptoms and the organs most severely affected, several phenotypes can be distinguished. Adrenomyeloneuropathy (AMN) and childhood cerebral adrenoleukodystrophy (CCALD) are the most frequent variants. At least 80% of female carriers will eventually develop neurological symptoms similar to men with AMN. The thin and scanty scalp hair in affected men may facilitate diagnosis of X-ALD. Identification of patients is of utmost importance, as adrenocortical insufficiency can be treated, rapidly progressive cerebral demyelination can be halted, and prenatal diagnostic testing is available. Furthermore, symptomatic therapies and multidisciplinary support may help patients coping with this disease.
Congenital Disorders of Glycosylation
Authors: Morava Eva , Janssen Mirian C. H.
Published: September 2016

Congenital disorders of glycosylation (CDGs) are usually diagnosed during infancy or childhood with severe multisystem disorder and neurologic presentation. With the increasing number of surviving adult patients, recognition of the distinct adult phenotype and awareness of the diagnostic difficulties in adulthood is essential. Patients with O-glycosylation defects or with abnormal dolichol synthesis might present first in adulthood. The majority of cases with adult CDG have a neurologic disease with intellectual disability, ataxia, speech disorder, visual disturbance, and skeletal findings. Psychological abnormalities are also common. Thrombotic complications and endocrine dysfunction might persist to adulthood. MPI-CDG, the only treatable form of CDG, might progress to chronic liver failure. Genetic testing is recommended in suspected cases, since transferrin screening analysis can be normal in adults, even in N-linked glycosylation disorders.
Trimethylaminuria
Authors: Lachmann Robin H. , Manning Nigel
Published: September 2016

Trimethylaminuria (TMAU) or “Fish Odor Syndrome” is a disorder caused by increased concentrations of the volatile amine trimethylamine (TMA) in body fluids resulting in an unpleasant odor. The excess TMA may occur either due to deficient hepatic oxidation (primary) or increased bacterial generation (secondary). Testing urine for TMA concentration is the first line of investigation, preferably following a dietary load of a TMA precursor such as choline. Measurement of TMA and TMA-oxide are used as a guide to determine a primary or secondary cause, which can be confirmed by DNA analysis. FMO3 deficiency may have further clinical consequences due to the wide range of substrates oxidized by the enzyme including many drugs. Treatment of both primary and secondary TMAU relies on restriction of dietary precursors of TMA, antibiotic-based reduction of gut flora, and odor chelators. Riboflavin may also benefit some patients.
Primary Hyperoxaluria
Authors: Groothoff Jaap W.
Published: September 2016

Primary hyperoxalurias (PH) are rare autosomal recessive metabolic disorders characterized by an increased endogenous oxalate production which leads to the development of urolithiasis, nephrocalcinosis, and ultimately to renal failure.

PH patients with severe renal failure develop life-threatening systemic oxalosis, which affects many organs such as bone, skin, retina, myocardium, vessel walls, and the central nervous system. So far, combined or sequential liver-kidney transplantation is the only therapeutic option for patients with advanced disease. Contrary to the former impression of a relatively mild course of disease in patients diagnosed as adults, recent data have shown that patients diagnosed in adulthood mostly present with established ESRD and systemic oxalosis. The fact that some of these patients respond to pyridoxine therapy underlines the importance of early diagnosis and measures to prevent renal failure and systemic oxalosis. All children with stone disease or nephrocalcinosis and all adults with recurrent stone disease should therefore be screened for PH.
Chronic Fatigue and Acute Rhabdomyolysis
Authors: Quinlivan Ros , Laforêt Pascal
Published: September 2016

Chronic fatigue syndrome is usually idiopathic, management involves a multi-disciplinary approach, advice on pacing activities and cognitive behavioral therapy. Metabolic myopathies that cause exercise intolerance may lead to a fatigue syndrome due to deconditioning, other neuromuscular disorders presenting with paroxysmal fatigue and weakness such as the myasthenic syndromes and channelopathies can occasionally be mistaken for a metabolic disorder. Acute rhabdomyolysis, a potentially life-threatening complication, has many causes both acquired and genetic. Urgent treatment is required and prevention of future episodes requires a careful search for an underlying genetic cause.
Brain MRI in Inherited Metabolic Diseases of Adulthood
Authors: Burlina Alessandro , Manara Renzo
Published: September 2016

Brain magnetic resonance imaging (MRI) is an important tool to investigate inherited metabolic diseases in adulthood. In the present chapter the major neuroradiological findings that brain MRI can provide to adult metabolic clinicians will be presented, classified according to white and gray matter involvement.

The role of brain MRI in the diagnostic process and clinical monitoring of specific inherited metabolic affecting the brain will be examined.
Approach to the Patient with General Symptoms
Authors: Brouwers Martijn C. G. J.
Published: September 2016

Fatigue and fever of unknown origin are frequently encountered symptoms at the general internal medicine outpatient clinic. Careful history taking and physical examination are essential in the detection of an inherited metabolic disease, since biomarkers, such as plasma lactate and creatine kinase levels, have low positive predictive values. Absence of any specific symptom or sign of an inherited metabolic disease do not advocate additional investigations.
Ophthalmic Manifestations of Inherited Metabolic Diseases
Authors: Hull Sarah , Webster Andrew R.
Published: September 2016

Systemic metabolic disorders can manifest in the cornea, lens, or retina with or without affecting vision. In some conditions findings are present from birth, and in others ophthalmic complications develop as the disease progresses. In some conditions in adults (for instance pseudoxanthoma elasticum (PXE), Wilson disease, Fabry and gyrate atrophy) ocular findings are pathognomic and should lead to targeted investigations such as sequencing of ABCC6 in PXE and serum ornithine levels in gyrate atrophy. Early diagnosis and treatment may improve visual outcomes. This chapter will focus on the key conditions in adults that have distinct presentations in the eye.
Abnormalities of CSF Neurotransmitters/Folates
Authors: Heales Simon , Pope Simon , Neergheen Viruna , Kurian Manju
Published: September 2016

The term Neurotansmitter disorder, in the area of metabolic disease, focuses particularly on inborn errors affecting monoamine (dopamine & serotonin), pyridoxal phosphate (B6) and folate metabolism. Whilst there has been considerable focus on these disorders with regards to the paediatric population, it is clear that an increasing number of adult patients are being identified. Adult neurologists need to be aware of the clinical presentation of such patients and the appropriate tests that need to be requested to ensure a correct diagnosis is achieved. CSF profiling, by a specialist laboratory, is often required. This has the ability to very often identify the nature of a primary defect with regards to implementation of appropriate treatment. For some of these disorders, treatment can be effective. This may be in the form of monoamine/vitamin replacement. However there are exceptions, e.g. aromatic amino acid decarboxylase and dopamine transporter deficiencies. There also needs also to be an awareness of the growing list of secondary factors that can cause impaired dopamine and serotonin metabolism.
Interpretation of Organic Acid Analysis Results
Authors: Duran Marinus , de Almeida Isabel Tavares
Published: September 2016

The analysis of organic acids in urine will detect more than 60 inherited conditions, most of which have clinical significance. Some of the abnormalities that are found represent non-diseases or artefacts of dietary/drug manipulations. Not all inherited organic acidemias are associated with excessively high excretion levels; some patients excrete the characteristic organic acids just above the upper normal level. This makes a quantitative analysis of organic acids a prerequisite. Approximately half of the organic acids will form acylcarnitines, therefore the analysis of carnitine and its esters is an important additional test.
Interpretation of Very-Long-Chain Fatty Acids Analysis Results
Authors: Vaz Frédéric M. , Wanders Ronald J. A.
Published: September 2016

The analysis of very long-chain fatty acids (VLCFAs) is a crucial step in the diagnostic work-up of patients suspected to suffer from a peroxisomal disorder (PD) including X-linked adrenoleukodystrophy (X-ALD). Although different analytical procedures have been described for the analysis of VLCFAs, most laboratories use GC/MS-analysis as method of choice. As described below, VLCFA-analysis is a robust and reliable diagnostic method which is usually unequivocal except in rare cases.
The History of the Treatment of Mental Illness
Authors: Mizock Lauren , Russinova Zlatka
Published: September 2016

Chapter 1 reviews the history of psychiatric treatment of people with mental illness in the United States and Western Europe, highlighting past perspectives in care, such as ancient trephination and exorcism during the demonology era, humorism in early Greek and Roman thought, a return to demonological perspectives in the Middle Ages, as well as mesmerism and psychoanalysis in the 19th and 20th centuries. The 20th-century biological perspective is described, including the use of insulin shock therapy, electroconvulsive therapy, and lobotomy. Next, the development of more humane treatment approaches is discussed, such as the moral treatment movement of the 1800s. The ex-patient’s movement of the 1970s is reviewed, leading up to the contemporary recovery-oriented and psychosocial rehabilitation models of care. The impact of stigma on the acceptance of serious mental illness is explored throughout this history. Discussion questions, activities, and diagrams are also included.
The Multiple Dimensions of the Acceptance of Mental Illness
Authors: Mizock Lauren , Russinova Zlatka
Published: September 2016

This chapter explains the multidimensional construct of acceptance, including the five dimensions of this process. Interview excerpts are provided as evidence of each of these five dimensions. The five dimensions include (1) identity dimension (developing a positive sense of self in the face of mental illness); (2) cognitive dimension (developing thoughts, beliefs, and awareness around accepting one’s mental illness); (3) behavioral dimension (engaging in actions and behaviors that signify acceptance of one’s mental illness); (4) emotional dimension (experiencing emotions that signify acceptance of one’s mental illness); and (5) relational dimension (engaging in relationships and interacting with others in a manner that promotes acceptance of the illness). A clinical strategies list, discussion questions, activities, the “Dimensions of Acceptance Worksheet,” and diagrams are also included.
Racial–Ethnic Cultural Factors in the Process of Acceptance of Mental Illness
Authors: Mizock Lauren , Russinova Zlatka
Published: September 2016

This chapter examines barriers and facilitators to the acceptance process that stem from the norms, values, beliefs, and practices found within various racial and ethnic groups. To illustrate this, five case narratives are provided, representing participants from various racial and ethnic backgrounds. The chapter emphasizes that although barriers may be found across a range of racial and ethnic cultural backgrounds, people with serious mental illness can be supported in drawing from their respective cultures of origin to locate various resources and actions that reinforce a positive sense of self in accepting and dealing with the experience of mental illness. Culturally responsive rehabilitation interventions can help individuals overcome cultural stigma and other barriers to reach an acceptance of their mental illness. A clinical strategies list, discussion questions, activities, the “Cultural Self-Awareness Worksheet,” and an explanatory table are also included.
Clinical Applications and Investigation of the Acceptance of Mental Illness
Authors: Mizock Lauren , Russinova Zlatka
Published: September 2016

This chapter reviews the 14 key principles of the process of acceptance of mental illness among culturally diverse groups that emerged from the findings in this book. Each principle is accompanied by clinical recommendations for facilitating the process of acceptance of mental illness. Examples are provided as to how clinicians, peer specialists, and researchers might respond to issues of acceptance of mental illness to facilitate hope and recovery. A number of acceptance-related techniques and theories in clinical care are also discussed. To further understanding and promote the process of acceptance of mental illness among persons in recovery, areas of potential development for future research are reviewed. An “Acceptance of Mental Illness Checklist” with scoring information is provided to assess the dimensions of acceptance and barriers and facilitators among people with serious mental illness and to aid further clinical and research examination of this construct.
The World of Expertise in Counseling and Psychotherapy
Authors: Jennings Len , Skovholt Thomas M. , Hessel Heather , Lakhan Sharada , Goh Michael
Published: September 2016

Research suggests that characteristics and attitudes of the therapist may be a significant contributor to psychotherapy outcome. Researchers using both quantitative and qualitative methods have explored the characteristics of expert practitioners. This chapter provides an overview of the literature on therapist variables and master therapists, describes the validity of the peer nomination process for selecting master therapists, and explains how qualitative meta-analysis is utilized to integrate findings from various countries. Finally, the importance of obtaining an international perspective on master therapists is emphasized. Qualitative studies on the practices of expert therapists in different countries offer rich descriptive narratives for how optimal therapy works in different country and cultural contexts. More qualitative studies are needed to understand old and new constructs from different cultural perspectives.
Canadian Master Couple Therapists
Authors: Smith Allyson , Whelton William J.
Published: September 2016

The purpose of this study was to explore the characteristics, skills, and experiences of master couple therapists and to gain a deeper understanding of how these experts approach the specialized practice of couple therapy. Seven psychologists and two social workers designated by their professional colleagues as “master couple therapists” participated in a qualitative interview and wrote narratives about their skills, characteristics, and experiences. Individuals who nominated these “master couple therapists” were also interviewed to further understand their choice to nominate these particular practitioners. Data from master couple therapists and nominator participants were analyzed using a category construction and thematic analysis process. Three overarching themes emerged from the data and suggested that this group of master couple therapists demonstrated a remarkable commitment to personal development and self, professional development, and relationships. The importance of engaging in self-care, ongoing learning, and developing strong personal and professional relationships is explored.
Psychotherapy Expertise in Singapore
Authors: Jennings Len , D’Rozario Vilma , Goh Michael , Sovereign Ashley , Brogger Megan , Skovholt Thomas M.
Published: September 2016

Personal characteristics, developmental influences, and therapy practices of nine peer-nominated expert psychotherapists practicing in the diverse country of Singapore were identified using qualitative methods. Sixteen themes were organized within four categories: (1) personal characteristics (empathic, nonjudgmental, and respectful), (2) developmental influences (experience, self-awareness, humility, and self-doubt), (3) approach to practice (balance between support and challenge, flexible therapeutic stance, empowerment/strength-based approach, primacy of the therapeutic alliance, comfortable addressing spirituality, and embraces working within a multicultural context), and (4) ongoing professional growth (professional development practices, benefits of teaching/training others, and challenges to professional development in Singapore). Cross-cultural comparisons between this study and Jennings and Skovholt’s 1999 study of Minnesota expert psychotherapists found considerable overlap of themes. Implications for research and practice of psychotherapy are offered.
Session 2: Calorie-Cutting Keys
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter (Session 2) discusses the importance of self-monitoring to gain awareness of calorie intake and to recognize patterns in eating behavior. Clients are provided with information on how to self-monitor food intake, including recording type of food, serving size, method of preparation, and time of eating. Strategies for beginning to reduce calories are discussed, such as limiting high-calorie foods in the environment, eating regular meals, and planning meals in advance. The idea of achieving a negative energy balance is introduced, meaning that in order to lose weight, clients must expend a greater amount of energy than they consume in the form of calories.
Session 4: Labels, Planning, and Calorie Accounting
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter describes Session 4. Topics include how to accurately read nutrition labels and the importance of meal planning when trying to meet a specific calorie goal. The idea of “calorie accounting” is introduced by comparing calorie goals to a personal budget. The strategy of purposefully limiting calories one day to “bank” a greater number of calories to use for a larger meal later that week is presented, and clients are encouraged to tally calories throughout the day to make informed decisions about how many calories to spend at each meal.
Session 8: Forming Good Habits and Flexibility
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter presents Session 8, which focuses on gaining values clarity by exploring clients’ values in greater depth and identifying ways that values connect to eating, physical activity, and health. Strategies for forming good habits are presented, such as performing a behavior immediately after a specific cue (e.g., walking immediately after eating dinner). Strategies for breaking bad habits are also discussed in the context of the psychological skill of “flexibility.”
Session 18: Willingness and Reducing Barriers to Physical Activity
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter (Session 18) provides a review of willingness and an illustration of willingness using the “Passengers on the Bus” metaphor, as well as a discussion of overcoming barriers to being active, such as feeling physically uncomfortable during exercise or not having the energy to exercise, in the context of willingness.
Session 6: Physical Activity and Willingness (Part 1)
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter (Session 6) discusses the multiple benefits of physical activity and provides strategies for how to plan and track physical activity. Clients are also introduced to the concept of willingness: a psychological standpoint that allows clients to engage in a behavior in order to achieve something that the client cares about, even when doing so might bring about a less pleasurable experience in the moment. Examples of willingness in the context of weight control are provided, such as going for a walk after dinner in order to meet one’s exercise goal for the day, even though one may feel tired and would rather watch TV.
Session 13: Strategies to Help Defuse and Increase Willingness
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

This chapter (Session 13) presents strategies on promoting defusion and increasing willingness to engage in weight control behaviors, even when doing so results in decreased pleasure or discomfort. Some of the strategies to promote defusion include using the metaphor of “leaves on a stream,” uncoupling internal experiences from behaviors, replacing “but” with “and,” and using the “just do it” approach.
Session 14: Review of Dietary Principles, Mindless Eating (Part 1), and Portion Sizes
Authors: Forman Evan M. , Butryn Meghan L.
Published: September 2016

In addition to reviewing key dietary principles, this chapter (Session 14) introduces the behavior of mindless eating and discusses examples of occasions when clients often eat mindlessly. This chapter also introduces methods of understanding and controlling portion sizes.
IPT-AST Overview
Authors: Young Jami F. , Mufson Laura , Schueler Christie M.
Published: September 2016

Interpersonal Psychotherapy–Adolescent Skills Training (IPT-AST) is an adolescent depression prevention program that teaches communication and interpersonal problem-solving skills to improve relationships. IPT-AST is rooted in the theory that depression occurs in an interpersonal context. This primarily group-based intervention helps adolescents learn ways to resolve conflicts, negotiate with others, and strengthen important relationships. This chapter describes the theoretical basis, key components, and structure of this intervention. In addition, there is a discussion of the leader’s role in implementing the program.
IPT-AST Pre-Group Sessions
Authors: Young Jami F. , Mufson Laura , Schueler Christie M.
Published: September 2016

Adolescents in Interpersonal Psychotherapy–Adolescent Skills Training (IPT-AST) participate in two individual pre-group sessions before the group begins. If two sessions are not feasible, a single 90-minute session can be offered. The goals of these sessions are to get to know the adolescent and build rapport; assess for depression symptoms over the past week; provide psychoeducation about depression; explain the structure of IPT-AST; conduct an interpersonal inventory of important relationships; and help the teen to set interpersonal goals for group. When possible, it is helpful for parents to attend the first pre-group session to learn about the program’s focus and structure. This chapter describes the structure and content of these pre-group sessions.
IPT-AST Mid-Group Session
Authors: Young Jami F. , Mufson Laura , Schueler Christie M.
Published: September 2016

This chapter describes the structure and content of the mid-group session in IPT-AST, which is scheduled with each adolescent individually between group sessions 4 and 6. The purpose of the mid-group session is to review how the teen is doing, discuss areas that still need to be addressed, and allow the teen to practice new communication strategies related to one of her interpersonal goals for group. For teens whose identified goals involve parents, this session is a particularly useful opportunity to practice new communication strategies with the parents in a safe environment. When a parent cannot attend the mid-group session, the mid-group session allows the teen to do targeted work toward her interpersonal goals in a one-on-one session.
IPT-AST With Different Populations and in Diverse Settings
Authors: Young Jami F. , Mufson Laura , Schueler Christie M.
Published: September 2016

This chapter discusses modifications that can be made when offering IPT-AST to adolescents at varying levels of risk, in particular universal and selective populations. The chapter also describes a number of settings where IPT-AST can be implemented, including medical, mental health, and community settings, and discusses associated benefits as well as challenges. Finally, logistical considerations when IPT-AST is offered in these diverse settings are discussed.
The Target Diagnosis
Authors: Markowitz John C.
Published: September 2016

This chapter undertakes a review of the diagnosis of posttraumatic stress disorder (PTSD), as defined in the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders (DSM-IV and DSM5). It recounts the controversy over what constitutes a DSM Criterion A “trauma,” as opposed to other upsetting events. The chapter distinguishes between acute and chronic trauma, age of trauma, and other facets of traumatic events. It emphasizes interpersonal aspects of trauma. The chapter discusses the use of assessment instruments for serial measurement of PTSD and related symptoms. It further addresses the IPT characterization of PTSD as a treatable medical illness that is not the patient’s fault.
A Pocket Guide to IPT
Authors: Markowitz John C.
Published: September 2016

This chapter attempts to provide a quick review of IPT, based on, and in effect condensing, earlier manuals such as OUP’s Clinician’s Quick Guide to Interpersonal Psychotherapy. IPT has three phases: a beginning, a middle, and a termination. (A fourth, maintenance phase, has also been tested for mood disorders.) Feelings and life events are connected. Facets of IPT include taking a history, making a formulation linking syndrome to life situation (grief, role dispute, or role transition), giving the patient the sick role, and setting a time limit. The chapter also discusses the conduct of sessions in different phases of IPT, focusing on a recent, affectively charged incident, reconstructing interpersonal encounters, exploring options, and role play.
IPT for PTSD—Initial Phase
Authors: Markowitz John C.
Published: September 2016

This chapter reviews the opening sessions of IPT for PTSD. These sessions focus on making a diagnosis, taking a history, setting a frame and a time limit, using an interpersonal context, and initial symptomatic relief. The therapist gives the patient the sick role and elicits an interpersonal inventory. The initial phase culminates in giving the patient an interpersonal formulation focusing on role transition, grief, or role dispute and getting the patient’s agreement to it. This phase sets the stage for the remainder of treatment. The chapter also discusses social supports, the absence of homework, contingencies, therapeutic alliance, “common factors” of psychotherapies, normalizing negative affects, psychoeducation, and taking social risks.
IPT for PTSD—Grief
Authors: Markowitz John C.
Published: September 2016

Parallel to Chapter 7, this chapter describes how therapists treat patients with PTSD by focusing on complicated grief or bereavement, the traumatic death of a significant other. This is illustrated by a single but extended case example, including a description of the initial, middle, and termination phases.
IPT for PTSD—Termination Phase and Maintenance
Authors: Markowitz John C.
Published: September 2016

This chapter describes the closing phase of acute treatment and the possibility of ongoing further treatment using IPT for PTSD. Issues in termination include consolidation of gains, reinforcing social skills, building patient independence, emotionally acknowledging the end of treatment, and anticipating future problems. Maintenance IPT has demonstrated efficacy for mood disorders, but no data exist for PTSD, where we have only recently found evidence of acute efficacy.
Training in IPT for PTSD
Authors: Markowitz John C.
Published: September 2016

This short chapter describes training in IPT. This involves the need for clinical experience and experience in IPT; reading a treatment manual treatment manual, taping sessions, measuring therapist adherence to treatment, the importance of supervision, and attending a workshop. The International Society for Interpersonal Psychotherapy (ISIPT) is mentioned as a resource.
Conclusion
Authors: Markowitz John C.
Published: September 2016

This very short chapter summarizes the training in previous chapters. It emphasizes what we do and do not know about IPT and PTSD, what the mechanism behind IPT and PTSD might be, and the need for further research in both IPT and PTSD.
Emotional Wellness and Professional Resiliency of Master Therapists
Authors: Mullenbach Mary A. , Skovholt Thomas M.
Published: September 2016

Nine psychotherapists previously identified as master therapists through a peer nomination process participated in qualitative interviews. Interview questions were designed to elicit information pertaining to emotional wellness and professional resiliency. Each interview was audiotaped and transcribed. A qualitative analysis of the transcripts was completed and salient characteristics were identified. Relevant transcribed statements from the initial study were re-analyzed for this group. A second interview was completed with each psychotherapist to validate the accuracy of the findings.
The results indicated that these master therapists have sought out supportive experiences throughout their training phase and professional careers. They have developed effective coping skills and are experts in their ability to create a positive work environment, manage professional stressors, and nurture self through a balance of solitude and relationships. Additional protective factors included proactive problem-solving, ongoing learning, and maintenance of a diversified practice.
The human brain: anatomy, evolution, and function
Authors: Brüne Martin
Published: September 2016

The human brain is the most complex organ that has ever evolved. It contains more neurons and synapses than any other primate brain. In relation to body weight, it is outstandingly large and distinctly convoluted. Several parts of the brain have enlarged disproportionally over evolutionary time. Those brain regions are mainly involved in emotion processing, understanding and reflecting upon one’s own and other minds, memory, social decision-making, and action planning, suggesting that the human brain is adapted to dealing with social matters. The human brain is also conspicuous with regard to its slow maturation, which is linked to the huge amount of social information that needs to be learned until adulthood. Cross-talk among neurons is maintained by the action of neuromodulators and neurotransmitters, many of which are ancient and have served multiple purposes in plants and animals. They help regulate defensive and agonistic behaviour, social attachment, and inhibitory control.
Human life history
Authors: Brüne Martin
Published: September 2016

Human life-history patterns are characterized by slow maturation, long parental dependency, longevity, and low number of offspring. These developmental peculiarities determine the amount of parental investment in offspring and mating effort, and assign an adaptive role to postmenopausal women. Hence evolution has produced specific adaptations pertaining to the relationship of human infants with their primary caregivers, subsumed under the term ‘attachment’. The way attachment patterns or ‘styles’ develop during early infancy coin the child’s view of the world in terms of the emotional availability and trustworthiness of others. Harsh environmental conditions during infancy promote insecure attachment styles and a ‘faster’ life-history strategy, including earlier sexual maturation and sexual activity and less parental investment in own offspring. The opposite is more likely to emerge when children grow up in secure conditions with responsive and emotionally available caregivers. These developmental trajectories have profound implications for social interaction and stress-regulation abilities.