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Recognizing why an infant cries is challenging as babies cannot communicate verbally with others to express their wishes or needs. This leads to difficulties for parents in identifying the needs and the health of their infants. This study used deep learning (DL) algorithms such as the convolutional neural network (CNN) and long short-term memory (LSTM) to recognize infants’ necessities such as hunger/thirst, need for a diaper change, emotional needs (e.g., need for touch/holding), and pain caused by medical treatment (e.g., injection). The classical artificial neural network (ANN) was also used for comparison. The inputs of ANN, CNN, and LSTM were the features extracted from 1607 10 s audio recordings of infants using mel-frequency cepstral coefficients (MFCC). Results showed that CNN and LSTM both provided decent performance, around 95% in accuracy, precision, and recall, in differentiating healthy and sick infants. For recognizing infants’ specific needs, CNN reached up to 60% accuracy, outperforming LSTM and ANN in almost all measures. These results could be applied as indicators for future applications to help parents understand their infant’s condition and needs.

Individuals with Rett syndrome (RTT) commonly demonstrate Parkinsonian features and dystonia at teen age; however, the pathological reason remains unclear. Abnormal iron accumulation in deep gray matter were reported in some Parkinsonian-related disorders. In this study, we investigated the iron accumulation in deep gray matter of RTT and its correlation with dystonia severity. We recruited 18 RTT-diagnosed participants with MECP2 mutations, from age 4 to 28, and 28 age-gender matched controls and investigated the iron accumulation by susceptibility weighted image (SWI) in substantia nigra (SN), globus pallidus (GP), putamen, caudate nucleus, and thalamus. Pearson’s correlation was applied for the relation between iron accumulation and dystonia severity. In RTT, the severity of dystonia scales showed significant increase in subjects older than 10 years, and the contrast ratios of SWI also showed significant differences in putamen, caudate nucleus and the average values of SN, putamen, and GP between RTT and controls. The age demonstrated moderate to high negative correlations with contrast ratios. The dystonia scales were correlated with the average contrast ratio of SN, putamen and GP, indicating iron accumulation in dopaminergic system and related grey matter. As the first SWI study for RTT individuals, we found increased iron deposition in dopaminergic system and related grey matter, which may partly explain the gradually increased dystonia.

Neurocritical monitoring is important in caring for patients in the neurological intensive care unit. Although clinical neurologic examination is standard for neurocritical monitoring, changes found during the examination are often late signs and insufficient to detect and prevent secondary brain injury. Therefore, various neuromonitoring tools have been developed to monitor different physiologic parameters, such as cerebral oxygenation, cerebral blood flow, cerebral pressure, cerebral autoregulation, cerebral electric activity, and cerebral metabolism. In this review, we have discussed current commonly used neurocritical monitoring tools. No single monitor is sufficient and perfect for neurocritical monitoring. Multimodal neurocritical monitoring is the current trend. However, the lack of common formatting standards and uncertainty of improvement in patients' outcomes warrant further studies of multimodal neurocritical monitoring. Nevertheless, multimodal neurocritical monitoring considers individual pathophysiological variations in patients or their injuries and allows clinicians to tailor individualized management decisions.

This study investigated how phonological saliency, deviance size, and maturation affect mismatch responses (MMRs) in early infancy. MMRs to Mandarin vowels and initial consonants were measured using a multi-deviant oddball paradigm in adults, newborns, and 6-month-olds. The vowel condition consisted of Mandarin syllable da as the standard, du as the large deviant and di as small deviant. As for initial consonant condition, we took syllable ba as standard, ga as large deviant, and ba as small deviant. While adults showed typical mismatch negativities (MMNs), newborns demonstrated broad positive MMRs (P-MMRs) to both initial consonants and vowels. For 6-month-olds, deviance size affected the polarity of MMRs to vowels. The large deviant du/da contrast elicited an adult-like MMN, while the small deviant di/da contrast elicited a P-MMR. Initial consonant changes elicited only P-MMRs, regardless of deviance size. In summary, MMRs to vowels switched from P-MMR at birth to MMN at 6 months. However, the polarity transition was not found for MMRs to initial consonants. The developmental trajectories of MMRs to vowels and initial consonants further support the phonological saliency hypothesis.

Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c.1270G>A; p.V424M) in the SCN2A gene, which encodes the αII-subunit of the voltage-gated Na+ channel (Nav1.2). The identified SCN2A mutation responsible for the development of the disease is confirmed to be de novo for the proband. Our findings broaden the clinical spectrum of SCN2A mutations, which resembles clinical phenotypes of SCN1A mutations by manifesting as fever sensitive seizures, and highlights that SCN2A mutations are an important cause of early-onset epileptic encephalopathies with movement disorders. In addition, the use of levetiracetam to treat SCN2A epileptic encephalopathy, when Na+ channel-blocking anticonvulsants are ineffective, is also recommended.

Background Increased prevalence of attention-deficit/hyperactivity disorder (ADHD) in children with allergic rhinitis (AR) has been reported. Our previous study showed that children with untreated AR had higher ADHD scores than did the controls. Objective This prospective follow-up study aimed to investigate whether elevated ADHD scores in children with AR could be decreased by AR treatment. Methods Sixty-eight children with AR (age range, 6-14 years) and who were drug naive were enrolled and evaluated by AR symptom score, ADHD symptom scores, and computerized continuous performance test, before and after AR therapy, which included nonpharmacologic intervention, oral antihistamines, and topical steroids. Thirty-one age-matched controls and 13 children with pure ADHD were also enrolled for comparison. The relationship between the AR and ADHD score change was analyzed by a partial correlation test, and univariate and multivariate linear regression models were applied to investigate possible predictors for the improvement of ADHD scores by AR treatment. Results AR symptom scores in children with AR decreased significantly after treatment (p < 0.001), and their ADHD scores also decreased significantly (p < 0.001). An improved AR symptom score was positively correlated with improved detectability (rp = 0.617, p = 0.001) and commission error (rp = 0.511, p = 0.011). Significant predictors for the improvement of ADHD scores included age, AR drugs, AR subtypes, and multiple atopic diseases (ps < 0.05). Conclusion Higher ADHD scores in children with AR compared with healthy controls decreased significantly with AR treatment. For children with AR and borderline ADHD symptoms, who do not meet full ADHD diagnostic criteria, we recommend initially treating their AR and monitoring improvement of ADHD symptoms.

The aim of this paper is to describe the clinical features and molecular findings of a unique case of Leber's hereditary optic neuropathy (LHON)/mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) overlap syndrome presenting as nonischemic central retinal vein occlusion (CRVO).An 11-year-old Chinese girl presented with sudden onset of bilateral blurred vision. The clinical history, imaging studies, and molecular analysis results were reviewed. The PubMed and OVID databases were used for literature review.Nonischemic CRVO in the subject's right eye and tortuosity of small and medium-sized retinal arterioles in the left eye were found at initial presentation. Bilateral optic disc pallor was then noted with recovery of CRVO. Severe headache and several stroke-like episodes occurred subsequently, with elevated lactate levels in serum and cerebrospinal fluid. LHON/MELAS overlap syndrome was diagnosed, and mitochondrial DNA sequencing revealed G13513A heteroplasmic mutation. Vision was 20/30 in the right eye and 20/800 in the left eye at the last visit.Mitochondrial DNA G13513A mutation can cause LHON/MELAS overlap syndrome. Nonischemic CRVO is a rare manifestation of LHON/MELAS. Atypical findings in cases of LHON should raise the suspicion of overlap syndrome or other mitochondrial diseases.

This study examined how maturation and the size of deviance affect the development of mismatch responses to Mandarin lexical tones by a multi-deviant oddball paradigm with both large deviant T1/T3 and small deviant T2/T3 pairs in newborns and 6-month-olds. The T1/T3 pair elicited a positive mismatch response (P-MMR) at birth but an adult-like mismatch negativity (MMN) at 6 months of age. For the T2/T3 pair, no significant MMR was seen in newborns, whereas a P-MMR was found when infants are 6 months old. Results suggest that the developmental trajectories of MMRs are dependent on the neural maturation and the discriminability of tonal changes.

We analyze the respective roles of neuro-imaging and EEG in the assessment of 11 children with holoprosencephaly and epilepsy. Seizures were present in seven patients (64%); six were treated with antiepileptic drugs; five had intractable epilepsy. Two of the patients with intractable epilepsy became seizure-free under polytherapy. Fourteen EEG recordings were performed in eight patients. The abnormal EEG findings included slow waves, focal epileptiform discharges, slow spike-and-wave complexes, hypsarrhythmia, frontal fast activity, fronto-occipital gradients of amplitudes (posterior amplitude attenuation), lack of photic driving, periodic discharges, and extremely large amplitudes. A fronto-occipital gradient was found only in alobar and semilobar holoprosencephaly (HPE), while hypsarrhythmia only in lobar HPE. Lack of photic driving was found only in alobar HPE. All EEGs showed diffuse slow waves, and all patients had severe developmental delay. The Deep Gray Score(DGS) in neuroimaging studies, thought to predict clinical outcome, was irrelevant given the presence and intractability of the epilepsies. Patients with higher DGS, nonetheless, tended to have higher mortality rate. In conclusion, EEG evaluation provides additional functional information to neuroimaging studies in the assessment of neurological outcome in patients with HPE. With a more mature and well-formed cerebrum, as found in the lobar and semilobar types, the possibility of hypsarrhythmia and photic driving increased, while that of fronto-occipital gradients decreased.

The authors present three patients with de novo absence epilepsy after administration of carbamazepine and vigabatrin. Despite the underlying diseases, the prognosis for drug-induced de novo absence seizure is good because it subsides rapidly after discontinuing the use of the offending drugs. The gamma-aminobutyric acid-transmitted thalamocortical circuitry accounts for a major part of the underlying neurophysiology of the absence epilepsy. Because drug-induced de novo absence seizure is rare, pro-absence drugs can only be considered a promoting factor. The underlying epileptogenecity of the patients or the synergistic effects of the accompanying drugs is required to trigger the de novo absence seizure. The possibility of drug-induced aggravation should be considered whenever an unexpected increase in seizure frequency and/or new seizure types appear following a change in drug treatment. By understanding the underlying mechanism of absence epilepsy, we can avoid the inappropriate use of anticonvulsants in children with epilepsy and prevent drug-induced absence seizures.

We report a case of Schwartz-Jampel syndrome in a 2-year-9-month-old Taiwanese girl and her clinical response to treatment. She had a history of generalized muscle stiffness and hypertrophy since birth. Clinical and electromyographic myotonia were noted. Other clinical features included short stature, unusual facial appearance, ophthalmoplegia, elbow joint contractures, and developmental hip dysplasia. Muscle stiffness and myotonia improved after infusion of lidocaine. She then received oral mexiletine and the symptoms significantly improved.

Background Allergic rhinitis (AR) is the most common chronic allergic disease in school-age children. An increased prevalence of attention deficit hyperactivity disorder (ADHD) in AR patients has been reported; however, inattention and hyperactivity in AR children have not been investigated using objective and scientific measurements. Methods We used AR symptom score, ADHD symptom scale, and computerized continuous performance test (CPT) to study the attention and impulsivity in AR children, age-matched controls, and ADHD children (aged 6–15 years). Univariate and multivariate linear regression analyses were applied to identify risk factors for impulsivity and inattention in AR children. Results Twenty-nine controls, 10 ADHD, and 105 AR children were enrolled. There were no differences in age and sex among the three groups. The scores of Hyperactivity/Impulsivity subscales of ADHD symptoms from both parents and teachers were significantly higher in the AR children. The CPT in AR children revealed higher commission errors, shorter reaction times, and more perseveration. Risk factors for inattention and impulsivity in AR children included younger age, male sex, higher AR symptom scores, persistent AR, moderate/severe AR, multiple atopic diseases, family history of atopy, and possible comorbidity with ADHD. Conclusion Care for AR children should not only involve treating their allergy, but also monitoring the possible comorbidities of impulsivity and inattention. In children with impulsivity, AR should be considered in addition to ADHD.