For a BED diagnosis to be given, marked distress regarding binge eating must be present, and the binge eating must occur an average of once a week for 3 months. Severity of BED is determined by the number of binge eating episodes per week. Pica is the persistent eating of nonnutritive, nonfood substances in a way that is not developmentally appropriate or culturally supported. Although substances consumed vary with age and availability, paper, soap, hair, chalk, paint, and clay are among the most commonly consumed in those with a pica diagnosis. There are multiple causes for the onset of pica, including iron-deficiency anemia, malnutrition, and pregnancy, and pica often occurs in tandem with other mental health disorders associated with impaired function, such as intellectual disability, autism spectrum disorder, and schizophrenia. In order for a diagnosis of pica to be warranted, behaviors must last for at least one month. Rumination disorder encompasses the repeated regurgitation of food, which may be re-chewed, re-swallowed, or spit out. For this diagnosis to be warranted, behaviors must persist for at least one month, and regurgitation of food cannot be attributed to another medical condition. Additionally, rumination disorder is distinct from AN, BN, BED, and ARFID, and thus cannot occur during the course of one of these illnesses. Avoidant/restrictive food intake disorder (ARFID) is a feeding or eating disturbance, such as a lack of interest in eating food, avoidance based on sensory characteristics of food, or concern about aversive consequences of eating, that prevents one from meeting nutritional energy needs.
Mutant PANK2 gene coded proteins are often caused by null or missense mutations most notably a 7bp deletion in the PANK2 gene coding sequence.This disorder has been reported in specific communities based on intra-community marriages where both parents of the child are carrying the same mutation. One of the communities reported is Agrawal (Agarwal) Community mainly based in Northern Part of India. The known mutation in Agarwal community is pathogenic mutation 1c.215_216insA in PANK2 gene. This is also coded as chr20:3870292-3870293insA by some labs. It results in a frameshift and premature truncation of the protein 47 amino acids downstream to codon 183 (p.Arg183GlufsTer47; ENST00000316562). Diagnosis
A neurological examination would show evidence of muscle rigidity; weakness; and abnormal postures, movements, and tremors. If other family members are also affected, this may help determine the diagnosis. Genetic tests can confirm an abnormal gene causing the disease. However, this test is not yet widely available. Other movement disorders and diseases must be ruled out. Individuals exhibiting any of the above listed symptoms are often tested using MRI (Magnetic Resonance Imaging) for a number of neuro-related disorders. An MRI usually shows iron deposits in the basal ganglia. Development of diagnostic criteria continues in the hope of further separating PKAN from other forms of neurodegenerative diseases featuring NBIA.