The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.

Objective: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. Only a few cases have been reported, and the epilepsy phenotype is not fully elucidated.

Methods: A retrospective chart review of two siblings with ST3GAL3-related DEE was completed.

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants.

Background: Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. However, heterozygous variants can also be found in unaffected individuals. Biallelic CNTNAP2 variants are rarer and cause a well-defined genetic syndrome known as CASPR2 deficiency disorder, a condition characterised by ID, early-onset refractory epilepsy, language impairment, and autistic features.

Hyperkinetic movement disorders in congenital disorders of glycosylation.

Background And Purpose: Congenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by CDG and to characterize phenomenology based on CDG subtypes.

Development of Two Dimensional Measures of Restricted and Repetitive Behavior in Parents and Children.

Objective: Restricted and repetitive behaviors (RRBs) are a heterogeneous set of behaviors common across a wide range of neurodevelopmental disorders (NDDs) and neuropsychiatric disorders (NPDs) that extend well into the general population. This study introduces 2 dimensional measurements of RRBs for use in typical and clinical populations from infancy to adulthood.

Method: The Childhood Routines Inventory-Revised (CRI-R) and the Adult Routines Inventory (ARI) were created and administered online to a nationally representative cohort of 3,108 parents with 3,032 children (range 12 months to 17 years 11 months).

Rhythmic movement disorder in childhood: An integrative review.

Rhythmic movement disorder consists of repetitive stereotypic movements, such as head banging or body rocking, that recur every second or so and may last from a few minutes to hours, usually prior to sleep onset. This review of childhood rhythmic movement disorder highlights the lack of systematic research into core aspects of the condition, relying heavily on small case series or case reports. Interpretation is further limited by almost universal failure to confirm the core diagnostic criteria (C) of the International classification of sleep disorders (III), namely that the rhythmic movements should have clinical consequences.

[Non-epileptic motor paroxysmal phenomena in wakefulness in childhood].

Paroxysmal events in childhood are a challenge for pediatric neurologists, given its highly heterogeneous clinical manifestations, often difficult to distinguish between phenomena of epileptic seizure or not. The non-epileptic paroxysmal episodes are neurological phenomena, with motor, sensory symptoms, and/or sensory impairments, with or without involvement of consciousness, epileptic phenomena unrelated, so no electroencephalographic correlative expression between or during episodes. From the clinical point of view can be classified into four groups: motor phenomena, syncope, migraine (and associated conditions) and acute psychiatric symptoms.

Jactatio corporis nocturna and dissociative disorder: a case report.

Jactatio corporis nocturna is a type of parasomnia. Rhythmic body movements during sleep are commonly observed in infancy and early childhood, and spontaneous resolution is expected after the age of 4 years. Rarely, the body movements persist until adulthood.

[Gender dysphoria in pervasive developmental disorders].

Pervasive developmental disorders (PDD) are characterized by two essential symptoms: impairment in social interaction, and restricted, repetitive, and stereotyped patterns of behavior, interests, and activities. PDD include autistic disorder, Asperger's disorder, and PDD-Not Otherwise Specified (PDD-NOS). These three disorders are sometimes termed autism spectrum disorders.

Paroxysmal non-epileptic motor events in childhood: a clinical and video-EEG-polymyographic study.

Aim: The aim of this article was to describe the phenomenology and polymyographic features of paroxysmal non-epileptic motor events (PNMEs) observed in a series of typically developing and children with neurological impairment.

Method: We conducted a retrospective evaluation of 63 individuals (29 females; 34 males) affected by PNMEs at the National Neurological Institute 'C. Besta' between 2006 and 2008.

A novel DCC mutation and genetic heterogeneity in congenital mirror movements.

Objective: DCC is the receptor for netrin, a protein that guides axon migration of developing neurons across the body's midline. Mutations in the DCC gene were recently identified in 2 families with congenital mirror movements (MM). The objective was to study clinical and genetic characteristics of 3 European families with MM and to test whether this disorder is genetically homogeneous.

Developmental and benign movement disorders in childhood.

Developmental and benign movement disorders are a group of movement disorders with onset in the neonatal period, infancy, or childhood. They are characterized by the absence of associated neurological manifestations and by their favorable outcome, although developmental abnormalities can be occasionally observed. Knowledge of the clinical, neurophysiological, and pathogenetic aspects of these disorders is poor.

Trichotillomania (hair pulling disorder), skin picking disorder, and stereotypic movement disorder: toward DSM-V.

In DSM-IV-TR, trichotillomania (TTM) is classified as an impulse control disorder (not classified elsewhere), skin picking lacks its own diagnostic category (but might be diagnosed as an impulse control disorder not otherwise specified), and stereotypic movement disorder is classified as a disorder usually first diagnosed in infancy, childhood, or adolescence. ICD-10 classifies TTM as a habit and impulse disorder, and includes stereotyped movement disorders in a section on other behavioral and emotional disorders with onset usually occurring in childhood and adolescence. This article provides a focused review of nosological issues relevant to DSM-V, given recent empirical findings.

Prevalence of childhood and early adolescence mental disorders among children attending primary health care centers in Mosul, Iraq: a cross-sectional study.

Background: Children and adolescents are more vulnerable to the affects of war and violence than adults. At the time of initiation of this study, nothing was known about the prevalence of childhood and early adolescence mental disorders. The aim of the present study is to measure the point prevalence of mental disorders among children of 1-15 years age in the city of Mosul, Iraq.

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

The Smith-Magenis syndrome is a rare, complex multisystemic disorder featuring, mental retardation and multiple congenital anomalies caused by a heterozygous interstitial deletion of chromosome 17p11.2. The phenotype of Smith-Magenis syndrome is characterized by a distinct pattern of features including infantile hypotonia, generalized complacency and lethargy in infancy, minor skeletal (brachycephaly, brachydactyly) and craniofacial features, ocular abnormalities, middle ear and laryngeal abnormalities including hoarse voice, as well as marked early expressive speech and language delays, psychomotor and growth retardation, and a 24-hour sleep disturbance.

Validity of childhood disintegrative disorder apart from autistic disorder with speech loss.

In order to test clinical validity of DSM-IV childhood disintegrative disorder (CDD), 10 CDD children (mean age = 8.2 years, SD = 3.8; 7 male and 3 female) and 30 age- and gender-matched children with DSM-IV autistic disorder (AD) with speech loss (SL) (ADSL) were compared on 24 variables not directly related to CDD criteria.

Continuous giggling and autistic disorder associated with hypothalamic hamartoma.

We present the case of a child affected since early infancy from recurring episodes of giggling mixed with stereotypical behaviours, mingled with head drops, and eventually with falls, in the context of an autistic disorder. Scalp video-EEG recordings revealed an epileptic encephalopathy with generalized slow spike-and-wave complexes alternating with electrodecremental periods, which generally corresponded to the onset of the aforementioned clinical sequences. A resection of a hypothalamic hamartoma was achieved at the age of two.

Characteristics of early rhythmic behaviors in children at risk for developmental disorders.

Objective: Abnormal stereotyped behaviors are a significant problem for many individuals with mental retardation or mental illness. To increase understanding of the development of abnormal stereotyped behaviors, the authors investigated the early rhythmic behaviors of children at increased risk for developmental delays.

Method: Rhythmic behaviors in 13-month-old children born prematurely and in children born at term were coded from laboratory videotapes of structured interaction segments.

Jactatio capitis nocturna with persistence in adulthood. Case report.

Rhythmic movement disorder, also known as jactatio capitis nocturna, is an infancy and childhood sleep-related disorder characterized by repetitive movements occurring immediately prior to sleep onset and sustained into light sleep. We report a 19-year-old man with a history of headbanging and repetitive bodyrocking since infancy, occurring on a daily basis at sleep onset. He was born a premature baby but psychomotor milestones were unremarkable.

Physical activity play: the nature and function of a neglected aspect of playing.

In this review, we consider the nature and possible developmental functions of physical activity play, defined as a playful context combined with a dimension of physical vigor. We distinguish 3 kinds of physical activity play, with consecutive age peaks: rhythmic stereotypies peaking in infancy, exercise play peaking during the preschool years, and rough-and-tumble play peaking in middle childhood. Gender differences (greater prevalence in males) characterize the latter 2 forms.

[A neurologic model of early infantile autism].

Based on the abnormalities in sleep-wakefulness cycle of early infantile autism, the author discussed its pathophysiology focusing on its main lesion in the raphe nuclei. These neurons, located in the midline portion of the brainstem send their axons to various neurons of the upper and lower nervous systems, including the locus coeruleus and the dopamine neurons of the tegmentum, the former having a broad innervation and the latter a restricted area in the central nervous system. These monoaminergic neurons modulate the functions of the involved neurons and regulate their functional and structural maturation in the early developmental course.

Rett's syndrome: progression of symptoms from infancy to childhood.

The results of studies of seven girls with Rett's syndrome and two additional cases suggestive of Rett's syndrome are presented. After normal neurological development up to the age of 7 to 20 months, there was a rapid regression of higher cortical function. Rett's syndrome was initially manifested by a delay of further motor development and the appearance of autistic traits.

[Early childhood autism from the behavioral biologic and neurophysiologic viewpoint].

Assuming that the autistic syndromes my be attributed to disturbances in information input and processing, the results of the most important behavioural and neurophysiological investigations made during the past 10 to 15 years are introduced and discussed in brief. Etiological questions are raised, too. Disturbed perception in different sensory systems may also be considered as partial disablement.